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_7700 | A mutation in CLRN1 (clarin 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Usher syndrome | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... |
Task1_train_7701 | Consider a variant on Chromosome 3 in gene CLRN1 (clarin 1). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa 61 | GCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAATAAGAGTGCAGGGGGTACCTGGCCTTGGGGACCTCCAACCAACTCCTCACGCAGGAGACGGTCCTTGTCCTCCTAGCCCACTCATTTCCAGTGCTTTTGTACTGGACCATTTCAGCTAAAGACTTACAGA... | GCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAATAAGAGTGCAGGGGGTACCTGGCCTTGGGGACCTCCAACCAACTCCTCACGCAGGAGACGGTCCTTGTCCTCCTAGCCCACTCATTTCCAGTGCTTTTGTACTGGACCATTTCAGCTAAAGACTTACAGA... |
Task1_train_7702 | Consider this mutation in CLRN1 (clarin 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Usher syndrome type 3 | AGGTTTCCAGATGATGCAGACGCTGCTCATCTGGGAACTCCAGTTTGAGAACCACTGCTTTACATTCCTTCTGTTAAAATTCTGTGTAATGGTCATCAGTAAAACAGCACACCACCCGGATCCACCTGTTTGGTTTTGGATGTTTGGTGAGCAGAAGTAATCCCAACTCTCTCTTCTCATCTGGACTTTCACATGTGATTGAATCACTTTCTCATTCAGTCTGCCCACACCCTGAGCCTGTGCTCTTGGCTCTTCAGCTCTGATTGCAAAGCCCTTGGCCTTTGTTTATGATATTCCATCCCTCTCCTCACTGGCTCATG... | AGGTTTCCAGATGATGCAGACGCTGCTCATCTGGGAACTCCAGTTTGAGAACCACTGCTTTACATTCCTTCTGTTAAAATTCTGTGTAATGGTCATCAGTAAAACAGCACACCACCCGGATCCACCTGTTTGGTTTTGGATGTTTGGTGAGCAGAAGTAATCCCAACTCTCTCTTCTCATCTGGACTTTCACATGTGATTGAATCACTTTCTCATTCAGTCTGCCCACACCCTGAGCCTGTGCTCTTGGCTCTTCAGCTCTGATTGCAAAGCCCTTGGCCTTTGTTTATGATATTCCATCCCTCTCCTCACTGGCTCATG... |
Task1_train_7703 | Here is a variant affecting CLRN1 (clarin 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa 61 | CCAACTCTGTCTCATGCTGCATTGAAAAAGATACTTTTATGCTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCA... | CCAACTCTGTCTCATGCTGCATTGAAAAAGATACTTTTATGCTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCA... |
Task1_train_7704 | Given this variant in gene CLRN1 (clarin 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinal dystrophy | GAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGC... | GAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGC... |
Task1_train_7705 | Mutation context: Chromosome 3, Gene CLRN1 (clarin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Usher syndrome type 3 | ATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGCTGTGTAAGGATTAAATGAGACAAAGCA... | ATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGCTGTGTAAGGATTAAATGAGACAAAGCA... |
Task1_train_7706 | This sequence change occurs on Chromosome 3, altering MED12L, P2RY12 (mediator complex subunit 12L| purinergic receptor P2Y12). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability | CTTCTGTGCAAGGAAGAGTGCTGAAAGCCGCTGGGGAAGAGCTGGAGAAGGGACAGCACTTGGGTTCTTCTTCCAAAAAGGAAAGGGACAGACAGAAACAGAAAAGGTGTGGCTGGAAGATGGGCGTCTGTGTGAGAGTTTAAAGAATAATTGAGAAAGTCTCACTTCCTGTAAACCTGTGTGGTCACTGTACCCACAGTCCACTGAAATTTAGTTTTTAAATGGAACTGGGAATATTCTATTAGGCAAGGCTGTCTTATTCCTAAAAAATTTCAGGTTATAATCCTTAATACATTAGTTCTCAATTCTGCCTTTATATC... | CTTCTGTGCAAGGAAGAGTGCTGAAAGCCGCTGGGGAAGAGCTGGAGAAGGGACAGCACTTGGGTTCTTCTTCCAAAAAGGAAAGGGACAGACAGAAACAGAAAAGGTGTGGCTGGAAGATGGGCGTCTGTGTGAGAGTTTAAAGAATAATTGAGAAAGTCTCACTTCCTGTAAACCTGTGTGGTCACTGTACCCACAGTCCACTGAAATTTAGTTTTTAAATGGAACTGGGAATATTCTATTAGGCAAGGCTGTCTTATTCCTAAAAAATTTCAGGTTATAATCCTTAATACATTAGTTCTCAATTCTGCCTTTATATC... |
Task1_train_7707 | A mutation in MME (membrane metalloendopeptidase), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Spinocerebellar ataxia 43 | TAATAACAGTGTCTTCAGATCTTTTCTAAAATGATAAAAATTCATTAACAATCTTCCATGGCTTGGAGTCTCAGAGACTTTCAAAAGTCACAGCACTTTGAAGAGCAGAGTTGGCAACTAAAGTTATCAGAGTGAAGAATGGCATGCTAACCTCAGGTGCAGGATGGCCAACTCAAAGTAGACCTCTATTCTTTGTTCTTCTGAGATAGGAACTAGCCAGAAACTTAGTTATTCAGGGGTGGGGTGGGAAGGCTGTGGGACCCAGGGTGGAAGGACCCACACAGTTCAAAATAAAACGAACCAACTATAGTGAAGGAAAA... | TAATAACAGTGTCTTCAGATCTTTTCTAAAATGATAAAAATTCATTAACAATCTTCCATGGCTTGGAGTCTCAGAGACTTTCAAAAGTCACAGCACTTTGAAGAGCAGAGTTGGCAACTAAAGTTATCAGAGTGAAGAATGGCATGCTAACCTCAGGTGCAGGATGGCCAACTCAAAGTAGACCTCTATTCTTTGTTCTTCTGAGATAGGAACTAGCCAGAAACTTAGTTATTCAGGGGTGGGGTGGGAAGGCTGTGGGACCCAGGGTGGAAGGACCCACACAGTTCAAAATAAAACGAACCAACTATAGTGAAGGAAAA... |
Task1_train_7708 | Here is a mutation in SLC33A1 (solute carrier family 33 member 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Spastic paraplegia | AGTCTGACAGGATCCACTACAGATTTCTCCTAAATGATTTACTGTATGCACAAAACTACTGAGATTACCTGGTAGTCATATTTTTACGTTTCAGTTAAAAATTAATTCATACATTAGCAAATATAACTTTCAAAGGATATAAGCTAGAAAAATCCAAAGTGACTCAGAAATATGCATTAGCAATAACTGCAGTTAAGTCCCAAAGGTTACTTCTGGGCCTTTGCCATTTACTTGAATCACTTGCATCCAGAACAAAAAAATCTCATTCTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGA... | AGTCTGACAGGATCCACTACAGATTTCTCCTAAATGATTTACTGTATGCACAAAACTACTGAGATTACCTGGTAGTCATATTTTTACGTTTCAGTTAAAAATTAATTCATACATTAGCAAATATAACTTTCAAAGGATATAAGCTAGAAAAATCCAAAGTGACTCAGAAATATGCATTAGCAATAACTGCAGTTAAGTCCCAAAGGTTACTTCTGGGCCTTTGCCATTTACTTGAATCACTTGCATCCAGAACAAAAAAATCTCATTCTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGA... |
Task1_train_7709 | The gene SLC33A1 (solute carrier family 33 member 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Huppke-Brendel syndrome | ATGATTTACTGTATGCACAAAACTACTGAGATTACCTGGTAGTCATATTTTTACGTTTCAGTTAAAAATTAATTCATACATTAGCAAATATAACTTTCAAAGGATATAAGCTAGAAAAATCCAAAGTGACTCAGAAATATGCATTAGCAATAACTGCAGTTAAGTCCCAAAGGTTACTTCTGGGCCTTTGCCATTTACTTGAATCACTTGCATCCAGAACAAAAAAATCTCATTCTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTGGGAGTTCTAG... | ATGATTTACTGTATGCACAAAACTACTGAGATTACCTGGTAGTCATATTTTTACGTTTCAGTTAAAAATTAATTCATACATTAGCAAATATAACTTTCAAAGGATATAAGCTAGAAAAATCCAAAGTGACTCAGAAATATGCATTAGCAATAACTGCAGTTAAGTCCCAAAGGTTACTTCTGGGCCTTTGCCATTTACTTGAATCACTTGCATCCAGAACAAAAAAATCTCATTCTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTGGGAGTTCTAG... |
Task1_train_7710 | A variant on Chromosome 3 in gene SLC33A1 (solute carrier family 33 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary spastic paraplegia 42 | TTTCGCCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCAGTGAATTATTCATAAAGCAGGAGTGGAACCCCAGAACACTGAGACAAATCTACCTGGGTGCAAAGCAATTATCTCTCAACCAAACAACTGAGGAAAAAGTACTATCACCATCATTTCACCAGTAATAGTGGCTCACTCATTAGCAGTTTGAGGAGGTGTACATAAGGTTAGATGTCTGTGAGAATAAGATTGCAGGAAAATAGTGTAGT... | TTTCGCCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCAGTGAATTATTCATAAAGCAGGAGTGGAACCCCAGAACACTGAGACAAATCTACCTGGGTGCAAAGCAATTATCTCTCAACCAAACAACTGAGGAAAAAGTACTATCACCATCATTTCACCAGTAATAGTGGCTCACTCATTAGCAGTTTGAGGAGGTGTACATAAGGTTAGATGTCTGTGAGAATAAGATTGCAGGAAAATAGTGTAGT... |
Task1_train_7711 | A mutation on Chromosome 3 affecting SLC33A1 (solute carrier family 33 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Huppke-Brendel syndrome | TGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCAGTGAATTATTCATAAAGCAGGAGTGGAACCCCAGAACACTGAGACAAATCTACCTGGGTGCAAAGCAATTATCTCTCAACCAAACAACTGAGGAAAAAGTACTATCACCATCATTTCACCAGTAATAGTGGCTCACTCATTAGCAGTTTGAGGAGGTGTACATAAGGTTAGATGTCTGTGAGAATAAGATTGCAGGAAAATAGTGTAGTTGTGACACCTC... | TGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCAGTGAATTATTCATAAAGCAGGAGTGGAACCCCAGAACACTGAGACAAATCTACCTGGGTGCAAAGCAATTATCTCTCAACCAAACAACTGAGGAAAAAGTACTATCACCATCATTTCACCAGTAATAGTGGCTCACTCATTAGCAGTTTGAGGAGGTGTACATAAGGTTAGATGTCTGTGAGAATAAGATTGCAGGAAAATAGTGTAGTTGTGACACCTC... |
Task1_train_7712 | An alteration has been detected in RSRC1 (arginine and serine rich coiled-coil 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual developmental disorder, autosomal recessive 70 | GACCTCAGGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCACTTTCATAGTCATTTTAAAGCTGGAAAGTGTCGTGGTAATCTTTTACCTATTGTAGTTTCATTTTTTAAATGAGGAAACTGGCTTAGATATGTAAGTGATTTACTGAAATCTTCAAAACCAAGTCTTCCCAGTGTTTTGTTAAACTAAAATCTTAGACATGTGAGCAACTTGGACGTTCAGAGCTACATTTAAAATCCTTAATTCTGGCTCTAGGTAAATAGCTTAAAGTTTTGATTTGAGTCCTAAGA... | GACCTCAGGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCACTTTCATAGTCATTTTAAAGCTGGAAAGTGTCGTGGTAATCTTTTACCTATTGTAGTTTCATTTTTTAAATGAGGAAACTGGCTTAGATATGTAAGTGATTTACTGAAATCTTCAAAACCAAGTCTTCCCAGTGTTTTGTTAAACTAAAATCTTAGACATGTGAGCAACTTGGACGTTCAGAGCTACATTTAAAATCCTTAATTCTGGCTCTAGGTAAATAGCTTAAAGTTTTGATTTGAGTCCTAAGA... |
Task1_train_7713 | Here’s a variant in GFM1 (G elongation factor mitochondrial 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CCAGAGGTTGGGGACTCCTGTGTTAGAACATGTAGATGCCAAGTACCTGTGCCAACCACAGGTCCACCTTTGCATACTTGACCTTACCAGTATTTTATGAATATATATGTACAGCTCCCATGTTACCAGTGAAGGGTCTTGACTATGAGTCATACAGGTTCTTGGCGTTTGAACAAAGAATTGGACAAAACACATAAGCAAAGCAATGAAAGAATGGAGCAATGAAGGCACAGATGTGTTGAAACAAAAGTACACTCCACAGCTCAAGAGCACCTGTTACAGAATTTTCTGGGATTTAAATACCCTCTAGAGCGTTCCCA... | CCAGAGGTTGGGGACTCCTGTGTTAGAACATGTAGATGCCAAGTACCTGTGCCAACCACAGGTCCACCTTTGCATACTTGACCTTACCAGTATTTTATGAATATATATGTACAGCTCCCATGTTACCAGTGAAGGGTCTTGACTATGAGTCATACAGGTTCTTGGCGTTTGAACAAAGAATTGGACAAAACACATAAGCAAAGCAATGAAAGAATGGAGCAATGAAGGCACAGATGTGTTGAAACAAAAGTACACTCCACAGCTCAAGAGCACCTGTTACAGAATTTTCTGGGATTTAAATACCCTCTAGAGCGTTCCCA... |
Task1_train_7714 | Given this context: Chromosome 3, gene GFM1 (G elongation factor mitochondrial 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | CATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGC... | CATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGC... |
Task1_train_7715 | This is a variant in GFM1 (G elongation factor mitochondrial 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | CATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGC... | CATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGC... |
Task1_train_7716 | This is a variant in GFM1 (G elongation factor mitochondrial 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | TAAATCGGGACCATTCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAG... | TAAATCGGGACCATTCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAG... |
Task1_train_7717 | A genomic change on Chromosome 3 affects GFM1 (G elongation factor mitochondrial 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; GFM1-related disorder | TGGCTTGTGGTATGATCTCATCAACTACCTTATCTCTAAAATGGGGACAATATTACTTAAATTCTAGGGAGGTTGAAGATGAATTCAGAAAACAGTCTGACCGTTTATACTGTTTTGCTATTATGAGAGAAGTTATAATCTAGATTCTAAAAATACCTTGTGTTTTATTTAGACAAAAGATCATCTTTGGTTTTAATTTTTCCTTGAAGCATTTTAATTAATGCCCTTAAGTAGTTTGCCATAGAGATGAGATTTTCTTGTTTTCAGACGGAAACATATTTTCTAGGACAACAGTAACACTTCCTTTCTGTACCAGATAG... | TGGCTTGTGGTATGATCTCATCAACTACCTTATCTCTAAAATGGGGACAATATTACTTAAATTCTAGGGAGGTTGAAGATGAATTCAGAAAACAGTCTGACCGTTTATACTGTTTTGCTATTATGAGAGAAGTTATAATCTAGATTCTAAAAATACCTTGTGTTTTATTTAGACAAAAGATCATCTTTGGTTTTAATTTTTCCTTGAAGCATTTTAATTAATGCCCTTAAGTAGTTTGCCATAGAGATGAGATTTTCTTGTTTTCAGACGGAAACATATTTTCTAGGACAACAGTAACACTTCCTTTCTGTACCAGATAG... |
Task1_train_7718 | A sequence alteration has been identified in GFM1 (G elongation factor mitochondrial 1) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | TGGCTTGTGGTATGATCTCATCAACTACCTTATCTCTAAAATGGGGACAATATTACTTAAATTCTAGGGAGGTTGAAGATGAATTCAGAAAACAGTCTGACCGTTTATACTGTTTTGCTATTATGAGAGAAGTTATAATCTAGATTCTAAAAATACCTTGTGTTTTATTTAGACAAAAGATCATCTTTGGTTTTAATTTTTCCTTGAAGCATTTTAATTAATGCCCTTAAGTAGTTTGCCATAGAGATGAGATTTTCTTGTTTTCAGACGGAAACATATTTTCTAGGACAACAGTAACACTTCCTTTCTGTACCAGATAG... | TGGCTTGTGGTATGATCTCATCAACTACCTTATCTCTAAAATGGGGACAATATTACTTAAATTCTAGGGAGGTTGAAGATGAATTCAGAAAACAGTCTGACCGTTTATACTGTTTTGCTATTATGAGAGAAGTTATAATCTAGATTCTAAAAATACCTTGTGTTTTATTTAGACAAAAGATCATCTTTGGTTTTAATTTTTCCTTGAAGCATTTTAATTAATGCCCTTAAGTAGTTTGCCATAGAGATGAGATTTTCTTGTTTTCAGACGGAAACATATTTTCTAGGACAACAGTAACACTTCCTTTCTGTACCAGATAG... |
Task1_train_7719 | A genomic change on Chromosome 3 affects GFM1 (G elongation factor mitochondrial 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | TTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGATGCCATAGTTTATTCCAAGTACATTGTTAAAATTGCTTGCTTTTCTCTTTGGAAGTATGCAAGGTTAGAACTTATGCTTATGTATTAT... | TTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGATGCCATAGTTTATTCCAAGTACATTGTTAAAATTGCTTGCTTTTCTCTTTGGAAGTATGCAAGGTTAGAACTTATGCTTATGTATTAT... |
Task1_train_7720 | Here is a genetic alteration in GFM1 (G elongation factor mitochondrial 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | TCTGTGGATCATAGGCTGATAGCTGTTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGA... | TCTGTGGATCATAGGCTGATAGCTGTTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGA... |
Task1_train_7721 | The following genetic variant occurs in GFM1 (G elongation factor mitochondrial 1) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | TTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGAATCCCTCTGACCCCCCCTTCTAGCT... | TTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGAATCCCTCTGACCCCCCCTTCTAGCT... |
Task1_train_7722 | Here is a variant affecting GFM1 (G elongation factor mitochondrial 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | CTACAGATCTGCTGGAGGAAAAATTTCTTTTAGGACTTGGATGCAATGTGGCTATTGAAAAATGGCAGGCGAGTTGGCTTTGGAATCTTATCTTATGGTATAGGATTAGAGGAAGGCATGTGTAAGGGTAAGATTCATTTGGAACTAAATCAGGGAGTAGATTTAGTGAGTTACAAGGAAGAGAGCAGGGTAAGGGGATGTGAAACAGAACCAGAAAGGCTGTCCTCAGTAATTGAGTGATGGACACCATATACTTGCCTCTTTCCTTCCCTTTACCCTTTCACAATCTAGATGTTTTACATTACTATCCTATTGAGAAC... | CTACAGATCTGCTGGAGGAAAAATTTCTTTTAGGACTTGGATGCAATGTGGCTATTGAAAAATGGCAGGCGAGTTGGCTTTGGAATCTTATCTTATGGTATAGGATTAGAGGAAGGCATGTGTAAGGGTAAGATTCATTTGGAACTAAATCAGGGAGTAGATTTAGTGAGTTACAAGGAAGAGAGCAGGGTAAGGGGATGTGAAACAGAACCAGAAAGGCTGTCCTCAGTAATTGAGTGATGGACACCATATACTTGCCTCTTTCCTTCCCTTTACCCTTTCACAATCTAGATGTTTTACATTACTATCCTATTGAGAAC... |
Task1_train_7723 | Mutation context: Chromosome 3, Gene IFT80, TRIM59-IFT80 (intraflagellar transport 80| TRIM59-IFT80 readthrough (NMD candidate)). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Asphyxiating thoracic dystrophy 2 | ATCAATCTAAAAGGAGGAATGCTGCAAAATGATTATTAATGGTCACCAAGCAGTTAATTATGTACTGCTGGTACCATTGTTTATATTGTTTTTACTGGATTACTGTTTATCTCTCTAATTATTTATCTTTGCAGATATTTATGTTATCTTTCCCCTTATGGATTATATGCTTCCTGAACAGCAGAAACATTTTACATTACCTTTACATAGTAGGTAGTTAATATTCATTCTATGTGCAATACTCTTCATCATTTTGACATTTGACTATTATTAATGACAACGAAATGGAATTCCTAATTAGGTTACAAGCTTTTTAAGAT... | ATCAATCTAAAAGGAGGAATGCTGCAAAATGATTATTAATGGTCACCAAGCAGTTAATTATGTACTGCTGGTACCATTGTTTATATTGTTTTTACTGGATTACTGTTTATCTCTCTAATTATTTATCTTTGCAGATATTTATGTTATCTTTCCCCTTATGGATTATATGCTTCCTGAACAGCAGAAACATTTTACATTACCTTTACATAGTAGGTAGTTAATATTCATTCTATGTGCAATACTCTTCATCATTTTGACATTTGACTATTATTAATGACAACGAAATGGAATTCCTAATTAGGTTACAAGCTTTTTAAGAT... |
Task1_train_7724 | Here’s a variant in IFT80, TRIM59-IFT80 (intraflagellar transport 80| TRIM59-IFT80 readthrough (NMD candidate)) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Asphyxiating thoracic dystrophy 2 | TACTGTGTTGTACAGATAATACAGAATTATTGAACTATTGGATTTTATAAACTAGGGAGTCAAAAATAATATACATGAAACTAAAATTGACAATGTAAGAATGTAATACATTGTGAAAATGAGACTACACATTCTATAGATTTAGAATCATTGATAGGGAAAATCAGAGGTAAAAGCTCCTTAAGTGATTAGATGGGATGATCTAACATCCTGATGTTGTAATTGAGAAAGGAGGGACCTAGCAGAAAAGAAATTAGAAAAATATACAAACAAACTTTAGAGTCAATGGAAGGCATGATCAAAGGAAGTCAAACTTGAGA... | TACTGTGTTGTACAGATAATACAGAATTATTGAACTATTGGATTTTATAAACTAGGGAGTCAAAAATAATATACATGAAACTAAAATTGACAATGTAAGAATGTAATACATTGTGAAAATGAGACTACACATTCTATAGATTTAGAATCATTGATAGGGAAAATCAGAGGTAAAAGCTCCTTAAGTGATTAGATGGGATGATCTAACATCCTGATGTTGTAATTGAGAAAGGAGGGACCTAGCAGAAAAGAAATTAGAAAAATATACAAACAAACTTTAGAGTCAATGGAAGGCATGATCAAAGGAAGTCAAACTTGAGA... |
Task1_train_7725 | A genomic change on Chromosome 3 affects TRIM59-IFT80, IFT80 (TRIM59-IFT80 readthrough (NMD candidate)| intraflagellar transport 80). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Asphyxiating thoracic dystrophy 2 | AAGGAGATACTCAATATCTTTTCGTACTATGATTTACTTAACTAGACCTCCAATTCTATATAAGATATGCTTCAAACGTTTCACAATTATTTTTTGAAAATATTTAGCTTGTAACTGCCTTTCTAGAGATTCACTAACATAAAAAAAAGCCCTTGAGTATTTCCTATATTTCTTGGCTTGAAATAATAGTGTTACCATGGTACATCAGGTACCAAGCAAAGAAAGACAAAACAGTGTAAAATATAAGAGATTACTGTTTTGAACTCAACCAAAGTCAGTCTCAACCACCGTATTAGATTGTTTCTAAAGGAAAACTTTAA... | AAGGAGATACTCAATATCTTTTCGTACTATGATTTACTTAACTAGACCTCCAATTCTATATAAGATATGCTTCAAACGTTTCACAATTATTTTTTGAAAATATTTAGCTTGTAACTGCCTTTCTAGAGATTCACTAACATAAAAAAAAGCCCTTGAGTATTTCCTATATTTCTTGGCTTGAAATAATAGTGTTACCATGGTACATCAGGTACCAAGCAAAGAAAGACAAAACAGTGTAAAATATAAGAGATTACTGTTTTGAACTCAACCAAAGTCAGTCTCAACCACCGTATTAGATTGTTTCTAAAGGAAAACTTTAA... |
Task1_train_7726 | This sequence change occurs on Chromosome 3, altering SI (sucrase-isomaltase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Sucrase-isomaltase deficiency | GGCAAGTTTTTAAATATGAAAAACATCAGAAGCAATCCCAGAGAATGAACTAATAATTGTATAAAAATAGAAAATCTACCATTACATTTTGATAACTCCCATAAATAGAGGCCAATTTGTAGCTTGGATGATAACTAGAAAACAGCTTCCCTTTAACTCAGCTTTGGTTTTAAATCTCTAGGGATATACCTAAATACAAAGGTAGCTGATCACAACCCATGCAAATAAAATGAAGTGCTAAAGGAAGAGAGTTTTAGATTTGGGAGTGTTACTCAAAGTTATATACTTTCTATTTTGAAACATCTTCCCCCCCACCTGCT... | GGCAAGTTTTTAAATATGAAAAACATCAGAAGCAATCCCAGAGAATGAACTAATAATTGTATAAAAATAGAAAATCTACCATTACATTTTGATAACTCCCATAAATAGAGGCCAATTTGTAGCTTGGATGATAACTAGAAAACAGCTTCCCTTTAACTCAGCTTTGGTTTTAAATCTCTAGGGATATACCTAAATACAAAGGTAGCTGATCACAACCCATGCAAATAAAATGAAGTGCTAAAGGAAGAGAGTTTTAGATTTGGGAGTGTTACTCAAAGTTATATACTTTCTATTTTGAAACATCTTCCCCCCCACCTGCT... |
Task1_train_7727 | Given this variant in gene SI (sucrase-isomaltase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Sucrase-isomaltase deficiency | TCTAACCTGATGTCATAAATTTACCATTTTATATTTTCTTCTGAAATGGATAAAGTTTATTTTACACACATAGGTCCCTTAATCTATCTGGGACTGTTTATTGTGCATGGTGTGAGAAATTGACACATTTTATATTGTTTCCTAAATACTGAGTCAATAGTCCATATAAATAGTTGATACTTCCCTTCACTGCTGTCATTTAACAAATTATACATGCATGGGCCTGTGTCTTATTTTGCTGTGTTAATCTATTTGTATATCCACAGTCCAGTATCATTGTGTTAATAACTACAGCTTTATCTGGTTAGAACTAATCCTCA... | TCTAACCTGATGTCATAAATTTACCATTTTATATTTTCTTCTGAAATGGATAAAGTTTATTTTACACACATAGGTCCCTTAATCTATCTGGGACTGTTTATTGTGCATGGTGTGAGAAATTGACACATTTTATATTGTTTCCTAAATACTGAGTCAATAGTCCATATAAATAGTTGATACTTCCCTTCACTGCTGTCATTTAACAAATTATACATGCATGGGCCTGTGTCTTATTTTGCTGTGTTAATCTATTTGTATATCCACAGTCCAGTATCATTGTGTTAATAACTACAGCTTTATCTGGTTAGAACTAATCCTCA... |
Task1_train_7728 | Here is a genetic alteration in SI (sucrase-isomaltase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Sucrase-isomaltase deficiency | ACATTCTTTTTTTCAGCACATGAATTATTCTCAAGGGTAGACCATATGTCAGGCCAAAAAACAAGTCTTAAAATATTTTTTTTTAAAAAATTGAAATCATATCAACTATTTTCTTACACCACAATGGAATAAAATCAGAAATAAATAACAAGAATAACTTTGGAAGCTATATGAAAACATGAAAATTGAACAATATGCTCCTGAATGACCACTGGGTCAATGAATAAATTTAGGAAAAAATTTACAAATGTTTTTAAAACAAATGATAATGGAAACACAATGTACCAAAGTCTATGGGATAAAATGAAAGAAGTGCTAAG... | ACATTCTTTTTTTCAGCACATGAATTATTCTCAAGGGTAGACCATATGTCAGGCCAAAAAACAAGTCTTAAAATATTTTTTTTTAAAAAATTGAAATCATATCAACTATTTTCTTACACCACAATGGAATAAAATCAGAAATAAATAACAAGAATAACTTTGGAAGCTATATGAAAACATGAAAATTGAACAATATGCTCCTGAATGACCACTGGGTCAATGAATAAATTTAGGAAAAAATTTACAAATGTTTTTAAAACAAATGATAATGGAAACACAATGTACCAAAGTCTATGGGATAAAATGAAAGAAGTGCTAAG... |
Task1_train_7729 | An alteration has been detected in SI (sucrase-isomaltase) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sucrase-isomaltase deficiency | CACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGCTCTCCACCTTCATCTTTGTTCAACCTTTATTTGTAGATTCTAATTTATGTTCCAGTATCTTTCATCCACAAGAAACCAAACTCCTTTATCACCGTAATTTTTATAAACCTATCCACCTACCCTCTTTTGGGAGGAAATTTATTTCTACTGAAAATGTCTTGAAATTAAGACTTTCCAATTCTATAATAATAGAATAAACTTATATAATTGTAAAATAATACACTTACAAAGTTTTACCGTTGCTTTTCCTAATAACTTGG... | CACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGCTCTCCACCTTCATCTTTGTTCAACCTTTATTTGTAGATTCTAATTTATGTTCCAGTATCTTTCATCCACAAGAAACCAAACTCCTTTATCACCGTAATTTTTATAAACCTATCCACCTACCCTCTTTTGGGAGGAAATTTATTTCTACTGAAAATGTCTTGAAATTAAGACTTTCCAATTCTATAATAATAGAATAAACTTATATAATTGTAAAATAATACACTTACAAAGTTTTACCGTTGCTTTTCCTAATAACTTGG... |
Task1_train_7730 | Mutation context: Chromosome 3, Gene BCHE (butyrylcholinesterase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | TTTTGTGACTTGAAAAATATAAGATATGGCAAGAACATGGGCCCTTAATCTTTTTAATCTGTCCACACTATTTATTTATAAAACCTAAATCCTTGTAACTTCAAACTGATTTTGTTCAAATGTAACATTTTTATTACTAGTGAATACATGTTACAATAATTGTATCGTGCATTTACTTCAAAATTATAAAATATATCTAATATGAAAACCTTATTATGGGGGAATTAATTAGAAAAAATGGTATAATACAAAATTATATTTTCAAGACACACTGAACCTAACCTTAAGCATGGTCCTAGACCACAGCTAGGTAGGTATTT... | TTTTGTGACTTGAAAAATATAAGATATGGCAAGAACATGGGCCCTTAATCTTTTTAATCTGTCCACACTATTTATTTATAAAACCTAAATCCTTGTAACTTCAAACTGATTTTGTTCAAATGTAACATTTTTATTACTAGTGAATACATGTTACAATAATTGTATCGTGCATTTACTTCAAAATTATAAAATATATCTAATATGAAAACCTTATTATGGGGGAATTAATTAGAAAAAATGGTATAATACAAAATTATATTTTCAAGACACACTGAACCTAACCTTAAGCATGGTCCTAGACCACAGCTAGGTAGGTATTT... |
Task1_train_7731 | Assess the clinical impact of this variant on gene BCHE (butyrylcholinesterase), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Deficiency of butyrylcholinesterase | GAACACCAGAAAGCAATAATGTAACTATCGGCATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCTGACTCTTTTGGACATACTATCACAATACTTAT... | GAACACCAGAAAGCAATAATGTAACTATCGGCATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCTGACTCTTTTGGACATACTATCACAATACTTAT... |
Task1_train_7732 | A variant on Chromosome 3 in gene SERPINI1 (serpin family I member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial encephalopathy with neuroserpin inclusion bodies | GCCTTCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCTGTATAACAGTTATTTTTTTAAAATGATAAGAAGTATGGTATAGTAAATACATAAACCAGTAACACAGTCATTTATTATCATTATCAAGTATTGTGTATTGTATGTAATTGTGCTATACTTTTATACAACTTGCAGTACAGTAGGTTTGTTTAAACCTATCACATGCGTCACCACGAGTAAAGCTTCTGCCTTTTCCTGGAGTTCTCTGGAGTACAAAAGGAAGTAAGAATGCCAAAGCAGTGGCAGCCCCCCAACGGTGGCTGAAATCAGTAGACTGGC... | GCCTTCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCTGTATAACAGTTATTTTTTTAAAATGATAAGAAGTATGGTATAGTAAATACATAAACCAGTAACACAGTCATTTATTATCATTATCAAGTATTGTGTATTGTATGTAATTGTGCTATACTTTTATACAACTTGCAGTACAGTAGGTTTGTTTAAACCTATCACATGCGTCACCACGAGTAAAGCTTCTGCCTTTTCCTGGAGTTCTCTGGAGTACAAAAGGAAGTAAGAATGCCAAAGCAGTGGCAGCCCCCCAACGGTGGCTGAAATCAGTAGACTGGC... |
Task1_train_7733 | Consider a variant on Chromosome 3 in gene SERPINI1 (serpin family I member 1). Determine its clinical classification and disease relevance. | Pathogenic; Familial encephalopathy with neuroserpin inclusion bodies | TGGAATACCTCCTGAAGGATCTGCCTGAGGCTGTATAACAGTTATTTTTTTAAAATGATAAGAAGTATGGTATAGTAAATACATAAACCAGTAACACAGTCATTTATTATCATTATCAAGTATTGTGTATTGTATGTAATTGTGCTATACTTTTATACAACTTGCAGTACAGTAGGTTTGTTTAAACCTATCACATGCGTCACCACGAGTAAAGCTTCTGCCTTTTCCTGGAGTTCTCTGGAGTACAAAAGGAAGTAAGAATGCCAAAGCAGTGGCAGCCCCCCAACGGTGGCTGAAATCAGTAGACTGGCAGGGCTGCT... | TGGAATACCTCCTGAAGGATCTGCCTGAGGCTGTATAACAGTTATTTTTTTAAAATGATAAGAAGTATGGTATAGTAAATACATAAACCAGTAACACAGTCATTTATTATCATTATCAAGTATTGTGTATTGTATGTAATTGTGCTATACTTTTATACAACTTGCAGTACAGTAGGTTTGTTTAAACCTATCACATGCGTCACCACGAGTAAAGCTTCTGCCTTTTCCTGGAGTTCTCTGGAGTACAAAAGGAAGTAAGAATGCCAAAGCAGTGGCAGCCCCCCAACGGTGGCTGAAATCAGTAGACTGGCAGGGCTGCT... |
Task1_train_7734 | The gene SERPINI1 (serpin family I member 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial encephalopathy with neuroserpin inclusion bodies | AGGATGACCTGCCTGCAGAGAGGAGCTACCCACTGTGGGTCTCCTCTCTGCTAAGAGTTGGACACTCGTTGGGACAACCCGCCTGCAGAGAGGAGCTACCCACTGCAGTTCTCTGAGCTGTTCTGTCACTCTATAAAGCACCTCTTTGCCTTGCTCACCCTCCACTTGTCTACATGCCTCATTCTTCCTGGATGTGAGACAAGAACCTGGGACCCACCAAATGGCAGGACTGAAAGAGCTGTAACACAAATAGGGCTGAAACATGCCCCTTGCTCGCCGTGTTGTAGGCAGCAAGAAGGAGAGAAGAGAGAAGAGAAGTG... | AGGATGACCTGCCTGCAGAGAGGAGCTACCCACTGTGGGTCTCCTCTCTGCTAAGAGTTGGACACTCGTTGGGACAACCCGCCTGCAGAGAGGAGCTACCCACTGCAGTTCTCTGAGCTGTTCTGTCACTCTATAAAGCACCTCTTTGCCTTGCTCACCCTCCACTTGTCTACATGCCTCATTCTTCCTGGATGTGAGACAAGAACCTGGGACCCACCAAATGGCAGGACTGAAAGAGCTGTAACACAAATAGGGCTGAAACATGCCCCTTGCTCGCCGTGTTGTAGGCAGCAAGAAGGAGAGAAGAGAGAAGAGAAGTG... |
Task1_train_7735 | This mutation occurs in SERPINI1 (serpin family I member 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial encephalopathy with neuroserpin inclusion bodies | GAATTTTCTAAATAGAATGTGAAGTGTGAACTCACTCCAGTGCCCCTTTACAGATAACTCTCATCTTCATTTTCTCTCTAATGAGAGACAGGAGGACATTGGCAGTTCTGCGAAAATAGATTTTTTCTGCTGTGCTGCCTGTTTAAATATTTTAAATATTTTCCTGCTACCCATTTAAACATTTTTCTTCCTACCAAATTATTTGCTGAAGTTGATTCTTAATTTTGTCAGCAAAAAGTTCTTATTTTTTATTTTCATGGTTACATGGCAAATGTATATATTTATGGAGAATATGGGATATTTTTGATACAGGTATGTAA... | GAATTTTCTAAATAGAATGTGAAGTGTGAACTCACTCCAGTGCCCCTTTACAGATAACTCTCATCTTCATTTTCTCTCTAATGAGAGACAGGAGGACATTGGCAGTTCTGCGAAAATAGATTTTTTCTGCTGTGCTGCCTGTTTAAATATTTTAAATATTTTCCTGCTACCCATTTAAACATTTTTCTTCCTACCAAATTATTTGCTGAAGTTGATTCTTAATTTTGTCAGCAAAAAGTTCTTATTTTTTATTTTCATGGTTACATGGCAAATGTATATATTTATGGAGAATATGGGATATTTTTGATACAGGTATGTAA... |
Task1_train_7736 | This alteration occurs within gene SERPINI1 (serpin family I member 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial encephalopathy with neuroserpin inclusion bodies | GAATTTTCTAAATAGAATGTGAAGTGTGAACTCACTCCAGTGCCCCTTTACAGATAACTCTCATCTTCATTTTCTCTCTAATGAGAGACAGGAGGACATTGGCAGTTCTGCGAAAATAGATTTTTTCTGCTGTGCTGCCTGTTTAAATATTTTAAATATTTTCCTGCTACCCATTTAAACATTTTTCTTCCTACCAAATTATTTGCTGAAGTTGATTCTTAATTTTGTCAGCAAAAAGTTCTTATTTTTTATTTTCATGGTTACATGGCAAATGTATATATTTATGGAGAATATGGGATATTTTTGATACAGGTATGTAA... | GAATTTTCTAAATAGAATGTGAAGTGTGAACTCACTCCAGTGCCCCTTTACAGATAACTCTCATCTTCATTTTCTCTCTAATGAGAGACAGGAGGACATTGGCAGTTCTGCGAAAATAGATTTTTTCTGCTGTGCTGCCTGTTTAAATATTTTAAATATTTTCCTGCTACCCATTTAAACATTTTTCTTCCTACCAAATTATTTGCTGAAGTTGATTCTTAATTTTGTCAGCAAAAAGTTCTTATTTTTTATTTTCATGGTTACATGGCAAATGTATATATTTATGGAGAATATGGGATATTTTTGATACAGGTATGTAA... |
Task1_train_7737 | The gene MECOM (MDS1 and EVI1 complex locus) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Radioulnar synostosis | GTTTATCTAGCAACTTATTTGGAAACTCACTCCTTATGAATTTGATCAGTGCTGTTTCTTAAAACATGCCCTATGAATATTAATAATAATAACTTTAGAAAGTCAAAGTCTCCCCAGTTTACCATAATACACATGCCCATGACGGTCCTTTGGGAATATATTGAACCACTGAAATCATGAAGTACAGTCTCGCAAAGAAGGTGCTTCTCTCACTAGCTTTTCCTTACCTCTATTGTGACATGAGAATATTTGTATTCACATAATGAGAATTTAGAGTGAGACAAATTATGAACAAGTTTTAAATAGATTCTGCCAAGAGA... | GTTTATCTAGCAACTTATTTGGAAACTCACTCCTTATGAATTTGATCAGTGCTGTTTCTTAAAACATGCCCTATGAATATTAATAATAATAACTTTAGAAAGTCAAAGTCTCCCCAGTTTACCATAATACACATGCCCATGACGGTCCTTTGGGAATATATTGAACCACTGAAATCATGAAGTACAGTCTCGCAAAGAAGGTGCTTCTCTCACTAGCTTTTCCTTACCTCTATTGTGACATGAGAATATTTGTATTCACATAATGAGAATTTAGAGTGAGACAAATTATGAACAAGTTTTAAATAGATTCTGCCAAGAGA... |
Task1_train_7738 | The gene MECOM (MDS1 and EVI1 complex locus) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Radioulnar synostosis | TTTATCTAGCAACTTATTTGGAAACTCACTCCTTATGAATTTGATCAGTGCTGTTTCTTAAAACATGCCCTATGAATATTAATAATAATAACTTTAGAAAGTCAAAGTCTCCCCAGTTTACCATAATACACATGCCCATGACGGTCCTTTGGGAATATATTGAACCACTGAAATCATGAAGTACAGTCTCGCAAAGAAGGTGCTTCTCTCACTAGCTTTTCCTTACCTCTATTGTGACATGAGAATATTTGTATTCACATAATGAGAATTTAGAGTGAGACAAATTATGAACAAGTTTTAAATAGATTCTGCCAAGAGAC... | TTTATCTAGCAACTTATTTGGAAACTCACTCCTTATGAATTTGATCAGTGCTGTTTCTTAAAACATGCCCTATGAATATTAATAATAATAACTTTAGAAAGTCAAAGTCTCCCCAGTTTACCATAATACACATGCCCATGACGGTCCTTTGGGAATATATTGAACCACTGAAATCATGAAGTACAGTCTCGCAAAGAAGGTGCTTCTCTCACTAGCTTTTCCTTACCTCTATTGTGACATGAGAATATTTGTATTCACATAATGAGAATTTAGAGTGAGACAAATTATGAACAAGTTTTAAATAGATTCTGCCAAGAGAC... |
Task1_train_7739 | This alteration in MECOM (MDS1 and EVI1 complex locus) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | TTATCATTTTAGAAGAGTTCTAGATTTATTAAAAGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGT... | TTATCATTTTAGAAGAGTTCTAGATTTATTAAAAGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGT... |
Task1_train_7740 | A variant has been detected on Chromosome 3 in MECOM (MDS1 and EVI1 complex locus). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | CTAGATTTATTAAAAGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATAC... | CTAGATTTATTAAAAGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATAC... |
Task1_train_7741 | This gene mutation involves MECOM (MDS1 and EVI1 complex locus) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATACCAAAATGCTGGTTT... | AGGTTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATACCAAAATGCTGGTTT... |
Task1_train_7742 | This mutation is located in gene MECOM (MDS1 and EVI1 complex locus) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATACCAAAATGCTGGTTTGTG... | TTGCAAAGATAGTACATAGTACCCATTTTCCCCTATTGTTAATATGTTTCAGGTACGTTTGTCACAACTATTAAACCAACACTGATACATTAACTAAACTATAAAATCTATCTAGTTCACTATATCCACTCATTTTAACATTCAATTGATCTTCCCTGTAGCAGTTATTATTGTGGTGTCCTACTTGTGATTTTGTTTTCCTCATTTTTTCTACACTGTTCATTGGAATTCTTCTGCAAGGAAAAAAAAAAAAAAAAACCCAGAGGGGCTGGACAAATAATTGTGTAAGCTCTCCAGCTATACCAAAATGCTGGTTTGTG... |
Task1_train_7743 | A mutation on Chromosome 3 affecting SLC7A14 (solute carrier family 7 member 14) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 68 | ATACATTGGCTATGATTACGATATGTAATTTATTTAAAGCATATTTTTTAAAAACTAGTTTCAATTCATCTTTATATGTATGTTAAAACCCAGTGCATCAGCCTGGAGACTTGTCAAGTTTGTTGTTTTATCTGCATTTACCAGGCTCCAGTGCTGCTCATCCATGGACTGTAGCCCCCAAGGGCAAGTGCCATGCTTCTATTCATTCCTGTCACTTAGCATTGGGTCTATTCTCAACCAGTGTTAGTTGAATGAAAAAATGGACTTTTACCTCCTTGCCATAATCCTAAAGCATGCCAAGATGGCATGAGCCTCAGCCT... | ATACATTGGCTATGATTACGATATGTAATTTATTTAAAGCATATTTTTTAAAAACTAGTTTCAATTCATCTTTATATGTATGTTAAAACCCAGTGCATCAGCCTGGAGACTTGTCAAGTTTGTTGTTTTATCTGCATTTACCAGGCTCCAGTGCTGCTCATCCATGGACTGTAGCCCCCAAGGGCAAGTGCCATGCTTCTATTCATTCCTGTCACTTAGCATTGGGTCTATTCTCAACCAGTGTTAGTTGAATGAAAAAATGGACTTTTACCTCCTTGCCATAATCCTAAAGCATGCCAAGATGGCATGAGCCTCAGCCT... |
Task1_train_7744 | A variant was discovered in gene SLC7A14, SLC7A14-AS1 (solute carrier family 7 member 14| SLC7A14 antisense RNA 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 68 | AGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGCAGTAAGTCTTTAAAAGGAACTCTGTGTGTGTGTGTGTGCACCTACACATGCCTATGCTATAGTCCACAAGCAGATACCAGTATCTATTTGCAAATGAGCAGGATTTGGTAGATAGGTAAGATGATCTGGTATCCTGGACCAAAAATTGGGCTATGTGGTGTGACAATTACAACAGCGCCTATGAAACCATGGCACAGAACATTTGAAGTGGGAACCATCCTGGGATATTTGGGATGTATATTTAGGTCTAAC... | AGCCTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGCAGTAAGTCTTTAAAAGGAACTCTGTGTGTGTGTGTGTGCACCTACACATGCCTATGCTATAGTCCACAAGCAGATACCAGTATCTATTTGCAAATGAGCAGGATTTGGTAGATAGGTAAGATGATCTGGTATCCTGGACCAAAAATTGGGCTATGTGGTGTGACAATTACAACAGCGCCTATGAAACCATGGCACAGAACATTTGAAGTGGGAACCATCCTGGGATATTTGGGATGTATATTTAGGTCTAAC... |
Task1_train_7745 | The following genetic variant occurs in SLC2A2 (solute carrier family 2 member 2) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Fanconi-Bickel syndrome | ATGTCCTGAGTTATTTAAGCTTATTTTGACTGTATCCTGAAATCCCAAGTGAAAATAGTTTATCCCAAATTGGCCCAAATGAAAAACAAATCACACTGAAAAGAAACAATTTCTTGTTCTTTGGACTGCTAAATTACATATATGTGAACAACTTTAGAAAACAAAGCAAATGTTCAGTGGTTTTTAATTATTTCACTCTTAAAGAGTACTTTTTAAAAAGTGCTTTTCTTCAATACACATTAAAGCAAACATAAGAAGGATTGATCAGTGCTCCAGTTGGTGGAGAAAACAGCCTAGAGATACGTTAGCACCCTGCTAAG... | ATGTCCTGAGTTATTTAAGCTTATTTTGACTGTATCCTGAAATCCCAAGTGAAAATAGTTTATCCCAAATTGGCCCAAATGAAAAACAAATCACACTGAAAAGAAACAATTTCTTGTTCTTTGGACTGCTAAATTACATATATGTGAACAACTTTAGAAAACAAAGCAAATGTTCAGTGGTTTTTAATTATTTCACTCTTAAAGAGTACTTTTTAAAAAGTGCTTTTCTTCAATACACATTAAAGCAAACATAAGAAGGATTGATCAGTGCTCCAGTTGGTGGAGAAAACAGCCTAGAGATACGTTAGCACCCTGCTAAG... |
Task1_train_7746 | The variant affects gene SLC2A2 (solute carrier family 2 member 2), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fanconi-Bickel syndrome | AGGTAATATACCAAATGTCTGACTCATGATTGTTTGAGTGTATGTGAAAACCAGGCTGTCCTCAATTAAAAAGCAAAGCAAACTATAACTCAAAGGATTGTACCAGAAGGGAATCAACATGGTTTTATAATAGATGTTAATGTTAACTGATAACCCACGCTATATGATCAGGTGAAACCTTTTTAGTGTTAAATCTTGCAAAAACCATTTGGCCATTAAATAAAGGAACTAAAATGGTTTTCTTTTCTGAGTGCTGAAAGATTTTGATAAGCCTACCAAAAATGAAAGTTTTTCTCTATAGACATTTTTTAGTATACTCT... | AGGTAATATACCAAATGTCTGACTCATGATTGTTTGAGTGTATGTGAAAACCAGGCTGTCCTCAATTAAAAAGCAAAGCAAACTATAACTCAAAGGATTGTACCAGAAGGGAATCAACATGGTTTTATAATAGATGTTAATGTTAACTGATAACCCACGCTATATGATCAGGTGAAACCTTTTTAGTGTTAAATCTTGCAAAAACCATTTGGCCATTAAATAAAGGAACTAAAATGGTTTTCTTTTCTGAGTGCTGAAAGATTTTGATAAGCCTACCAAAAATGAAAGTTTTTCTCTATAGACATTTTTTAGTATACTCT... |
Task1_train_7747 | This variant affects gene SLC2A2 (solute carrier family 2 member 2) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi-Bickel syndrome | GTGTATTGTAGACAGTTCACTATCATTACTATGTAGTATTTTATTATATTAATATACCACGATTTACTACTATTCTATTGATGAGTATTTAGGTAGCTGCCATTCCTAAATGAATAATTTACTATTCATTAGGCTATCAGAAATCCTCAATTCAATACTCAACTCTAGAAGCCACTTGCAATGTAGTTTTTTTTGGGGGGGAGGGTGGGAGGCGGGTGTAATTATTCTTTTTCCCTCCTTGTATTTATTTTGATTTTTGCCTTTTGCCTTCACCTTAATATTAAACAGACATATAGTACCATTGACTATTGACGTTTTTA... | GTGTATTGTAGACAGTTCACTATCATTACTATGTAGTATTTTATTATATTAATATACCACGATTTACTACTATTCTATTGATGAGTATTTAGGTAGCTGCCATTCCTAAATGAATAATTTACTATTCATTAGGCTATCAGAAATCCTCAATTCAATACTCAACTCTAGAAGCCACTTGCAATGTAGTTTTTTTTGGGGGGGAGGGTGGGAGGCGGGTGTAATTATTCTTTTTCCCTCCTTGTATTTATTTTGATTTTTGCCTTTTGCCTTCACCTTAATATTAAACAGACATATAGTACCATTGACTATTGACGTTTTTA... |
Task1_train_7748 | Located on Chromosome 3, this mutation impacts SLC2A2 (solute carrier family 2 member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fanconi-Bickel syndrome | AATTTTTAAGTTGAAAGAGACCTTAGAGAACAATGGATTCTTGTCTAATTCCTCCATTCTTCAGTTGTAGAAACTGAGGTCTCACAGGCCAAGTTGTTTATGTCATTTGTCTGATTTCTGTGAGCATTTTGGGCATATTCAGTGTGACAACTCAGGTCTCTTGACCCCAGTTCCTTGCTTATCCTACTTCTTTCAAAGTCTGGATAGATTCACAAAGCTGAAAAACATTGCACTACCTCAGTTCTCATTCTTTCTGGGTTCCATTGTTAGGCAGTTCCTTGGTTATCAAGAAAAGATCTACAACGTAATTTCAAAAGCCC... | AATTTTTAAGTTGAAAGAGACCTTAGAGAACAATGGATTCTTGTCTAATTCCTCCATTCTTCAGTTGTAGAAACTGAGGTCTCACAGGCCAAGTTGTTTATGTCATTTGTCTGATTTCTGTGAGCATTTTGGGCATATTCAGTGTGACAACTCAGGTCTCTTGACCCCAGTTCCTTGCTTATCCTACTTCTTTCAAAGTCTGGATAGATTCACAAAGCTGAAAAACATTGCACTACCTCAGTTCTCATTCTTTCTGGGTTCCATTGTTAGGCAGTTCCTTGGTTATCAAGAAAAGATCTACAACGTAATTTCAAAAGCCC... |
Task1_train_7749 | Here is a variant affecting PLD1 (phospholipase D1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiac valvular defect, developmental | AAAAAACCAACTTGGTTTCATTGATTTTCTGTATTATTTTTCTATCCTCTGGTTTTATTTCCCACTGCTCCAATCTTTATTTCCTTCCTTCTGGTAGTTTTAGGTTGAGTTTGTTCTTCTTTTTCTAGTTCCTCAAACTGTAAAGTTAGGTTGTTATTTTGAGATCTTTCTTCTTCTTGCAAGTATAGCTGTAAATTTCCCCCTTTGCACTGCTTTCTCTGTGTCCCATAATTTTGGTATGTTGTTTCATTTTCATTTGTCTCTAAGTATTTTCTCTTTCCCTTGTGAATTTTTGTTTTATCATTGCTTGTTTAACAGTG... | AAAAAACCAACTTGGTTTCATTGATTTTCTGTATTATTTTTCTATCCTCTGGTTTTATTTCCCACTGCTCCAATCTTTATTTCCTTCCTTCTGGTAGTTTTAGGTTGAGTTTGTTCTTCTTTTTCTAGTTCCTCAAACTGTAAAGTTAGGTTGTTATTTTGAGATCTTTCTTCTTCTTGCAAGTATAGCTGTAAATTTCCCCCTTTGCACTGCTTTCTCTGTGTCCCATAATTTTGGTATGTTGTTTCATTTTCATTTGTCTCTAAGTATTTTCTCTTTCCCTTGTGAATTTTTGTTTTATCATTGCTTGTTTAACAGTG... |
Task1_train_7750 | Here is a variant affecting TBL1XR1 (TBL1X/Y related 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pierpont syndrome | CTACTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCA... | CTACTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCA... |
Task1_train_7751 | A variant affecting Chromosome 3, within the gene TBL1XR1 (TBL1X/Y related 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; TBL1XR1-related disorder | CTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAA... | CTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAA... |
Task1_train_7752 | With a mutation on Chromosome 3 in gene TBL1XR1 (TBL1X/Y related 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pierpont syndrome | CTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAA... | CTCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAA... |
Task1_train_7753 | Given this context: Chromosome 3, gene TBL1XR1 (TBL1X/Y related 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAAC... | TCATGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAAC... |
Task1_train_7754 | This alteration occurs within gene TBL1XR1 (TBL1X/Y related 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAACATT... | TGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTTAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGGCACAAGAGCGAGACTTCATCTCAAAAAATAAAAATAAAAATGAAAAATAAAGTTTAGCTGGGTGTATGATTAGTGTCTTCCCACAAACACAAAGTTAAACTAAAATTTAGGAAAGAGTTTTTAAGGCATATATATCATAGTTACAGAATATATCCAACATAGGCATATATTCATAAAGACAGCAAATATGGGAGTAGAGGTAAGGAAGTAATAATAAAAATTAAAGCAGAACATT... |
Task1_train_7755 | With a mutation on Chromosome 3 in gene TBL1XR1 (TBL1X/Y related 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pierpont syndrome | AACAAAGTTTCTCAGTGTATACCTTTATACAAGGTTTGAGGTTTTTTCTGAACTGTATGCATGTATGAAGTAATTTAAAAATCTTCAAAGTAAGTGATGAAAATTAATTTGTGAAATGAACCATGGTGGCGGACACCTACACAAAGAGAAATACACCATAACAACTTATTATGTGTGCACTACAACCAACAAAGATCCGATAACTGAGAGGGGTGAGTTCAGTGACTGCTATTAAAAAAGTATAGTACATAGAGCAAAAAACTAAAACATTGAGAAGATTTAAAAAATTGAAAGCAACAGACTGTTTTCTCCACTTCTAA... | AACAAAGTTTCTCAGTGTATACCTTTATACAAGGTTTGAGGTTTTTTCTGAACTGTATGCATGTATGAAGTAATTTAAAAATCTTCAAAGTAAGTGATGAAAATTAATTTGTGAAATGAACCATGGTGGCGGACACCTACACAAAGAGAAATACACCATAACAACTTATTATGTGTGCACTACAACCAACAAAGATCCGATAACTGAGAGGGGTGAGTTCAGTGACTGCTATTAAAAAAGTATAGTACATAGAGCAAAAAACTAAAACATTGAGAAGATTTAAAAAATTGAAAGCAACAGACTGTTTTCTCCACTTCTAA... |
Task1_train_7756 | Given this variant in gene TBL1XR1 (TBL1X/Y related 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pierpont syndrome | AGTGTATACCTTTATACAAGGTTTGAGGTTTTTTCTGAACTGTATGCATGTATGAAGTAATTTAAAAATCTTCAAAGTAAGTGATGAAAATTAATTTGTGAAATGAACCATGGTGGCGGACACCTACACAAAGAGAAATACACCATAACAACTTATTATGTGTGCACTACAACCAACAAAGATCCGATAACTGAGAGGGGTGAGTTCAGTGACTGCTATTAAAAAAGTATAGTACATAGAGCAAAAAACTAAAACATTGAGAAGATTTAAAAAATTGAAAGCAACAGACTGTTTTCTCCACTTCTAAGAATCTCTGAAAC... | AGTGTATACCTTTATACAAGGTTTGAGGTTTTTTCTGAACTGTATGCATGTATGAAGTAATTTAAAAATCTTCAAAGTAAGTGATGAAAATTAATTTGTGAAATGAACCATGGTGGCGGACACCTACACAAAGAGAAATACACCATAACAACTTATTATGTGTGCACTACAACCAACAAAGATCCGATAACTGAGAGGGGTGAGTTCAGTGACTGCTATTAAAAAAGTATAGTACATAGAGCAAAAAACTAAAACATTGAGAAGATTTAAAAAATTGAAAGCAACAGACTGTTTTCTCCACTTCTAAGAATCTCTGAAAC... |
Task1_train_7757 | Here’s a variant in LOC126806878, TBL1XR1, TBL1XR1-AS1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367| TBL1X/Y related 1| TBL1XR1 antisense RNA 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TTACTAGTTTAATTTGTTTAACTAAAGGTAAAGGAACCAGGCCGCGTTCAGCCAGATCTATTACTGAAGTTACTTCTCAGTTTTCCAAGAAGATATGTGTCTATTTCTATAACTATCTCTAATATTTTTCCCACCAGCCTGATTGAACCCCAACAGTGAACCACCAGGCCTGGCCATGCCCAAGGATTTTAAAGACCACCTATCTGCTGAGAATTCCCAGTTTTTAATCTTGAGCTTACAGTTCTCTAAGCATCAGTCCCACCTATCTCCTCCATTCGCATGACTCAGCGTCACCTTCTCATTCCATCTGGCATTCCCTC... | TTACTAGTTTAATTTGTTTAACTAAAGGTAAAGGAACCAGGCCGCGTTCAGCCAGATCTATTACTGAAGTTACTTCTCAGTTTTCCAAGAAGATATGTGTCTATTTCTATAACTATCTCTAATATTTTTCCCACCAGCCTGATTGAACCCCAACAGTGAACCACCAGGCCTGGCCATGCCCAAGGATTTTAAAGACCACCTATCTGCTGAGAATTCCCAGTTTTTAATCTTGAGCTTACAGTTCTCTAAGCATCAGTCCCACCTATCTCCTCCATTCGCATGACTCAGCGTCACCTTCTCATTCCATCTGGCATTCCCTC... |
Task1_train_7758 | Given this context: Chromosome 3, gene LOC126806878, TBL1XR1, TBL1XR1-AS1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367| TBL1X/Y related 1| TBL1XR1 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CCTATCTCCTCCATTCGCATGACTCAGCGTCACCTTCTCATTCCATCTGGCATTCCCTCTTCTCAGAAAACGGCCCATTACACATTATCCATCCATCCTAGTTTTTGCTTTAAAATCCTTTGTGACATTTAAACATTCTTAGGATGAAGAAAAGCTCTCTAACAATTTCTAGTTTTAACCTCTCTCCAGCTTCAACTCAATATGTGGCACAAGGCCCTCTGGACACTGCCCTTCTGTCATTTCCTCATATGTGTCACACACAGTTCCAGAAGAAGTTTTTTTCATGTTATAAGCATTAATACGTGTGCACATAAGGAAAA... | CCTATCTCCTCCATTCGCATGACTCAGCGTCACCTTCTCATTCCATCTGGCATTCCCTCTTCTCAGAAAACGGCCCATTACACATTATCCATCCATCCTAGTTTTTGCTTTAAAATCCTTTGTGACATTTAAACATTCTTAGGATGAAGAAAAGCTCTCTAACAATTTCTAGTTTTAACCTCTCTCCAGCTTCAACTCAATATGTGGCACAAGGCCCTCTGGACACTGCCCTTCTGTCATTTCCTCATATGTGTCACACACAGTTCCAGAAGAAGTTTTTTTCATGTTATAAGCATTAATACGTGTGCACATAAGGAAAA... |
Task1_train_7759 | A mutation found in TBL1XR1-AS1, TBL1XR1 (TBL1XR1 antisense RNA 1| TBL1X/Y related 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CTCCAAACTGAAATTTTTTCTAGCACAACAAAATCAAAGAGACAGCTAAATCAGGTAGTACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACAT... | CTCCAAACTGAAATTTTTTCTAGCACAACAAAATCAAAGAGACAGCTAAATCAGGTAGTACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACAT... |
Task1_train_7760 | This alteration occurs within gene TBL1XR1, TBL1XR1-AS1 (TBL1X/Y related 1| TBL1XR1 antisense RNA 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; TBL1XR1-related neurodevelopmental disorder | ATTTTTTCTAGCACAACAAAATCAAAGAGACAGCTAAATCAGGTAGTACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATT... | ATTTTTTCTAGCACAACAAAATCAAAGAGACAGCTAAATCAGGTAGTACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATT... |
Task1_train_7761 | Here is a variant affecting TBL1XR1, TBL1XR1-AS1 (TBL1X/Y related 1| TBL1XR1 antisense RNA 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 41 | TACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATTGGGAAAGTCTATTTTTTACTTCCTGTAGACAAATACTCAGGTACCT... | TACTAAAACCACTGGGTATCTTGTTCCAGTTTAACATCATTTAGTTACTGCAGTCGGGAAACTCACTGAAAAGCGGCGCAAAGGTTCTAGGCTTAAACGGAGCGTGGGCACAAAAATATGGCTGGCTCTACTCAAGCTGAATGTCTGGGTGTGTGACTGTATATCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATTGGGAAAGTCTATTTTTTACTTCCTGTAGACAAATACTCAGGTACCT... |
Task1_train_7762 | The variant affects gene TBL1XR1, TBL1XR1-AS1 (TBL1X/Y related 1| TBL1XR1 antisense RNA 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATTGGGAAAGTCTATTTTTTACTTCCTGTAGACAAATACTCAGGTACCTGGATCCAAAATGAGAAAATGACAACAATACCTAAACTTATAGGAGTCTATACAGTATTTTCATGTATATCATTTAGCCTTATCCCATAACAAACAGGTATTATTATTATTATTATCCCTCATTTACAGACAGTGAAAAGGAGGCTCAGAAAGGTTAAGTGACT... | TCATGAAGGACGGAGCACTATTTTCGAGGTCTGATTAATCAGATAAAAGTACCACATTGAGTATTTCTTAAAAGAGAAATCCATCTAAGCCACCAACATTCCAACAACATTGGGAAAGTCTATTTTTTACTTCCTGTAGACAAATACTCAGGTACCTGGATCCAAAATGAGAAAATGACAACAATACCTAAACTTATAGGAGTCTATACAGTATTTTCATGTATATCATTTAGCCTTATCCCATAACAAACAGGTATTATTATTATTATTATCCCTCATTTACAGACAGTGAAAAGGAGGCTCAGAAAGGTTAAGTGACT... |
Task1_train_7763 | This sequence change occurs on Chromosome 3, altering TBL1XR1 (TBL1X/Y related 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CTATTATCTCAAATATTTAGGTACCATTTTCACACTTCTACTTGACATTTAAAGAAAATGAAGTACAGAGTAAAAAGTAACAATTTAACCAAGGATATGCTGTGGGATACACTGAAGAGCTGGATGTTGAACCTTGGTCTGACTAAGGCAAGTCTGTGTCCCACAGTGGGGGAGAGGGCTGGCAGGGGACGACTCCCGGTTTGTTGTTACTAGTTAATAAAACCCCAAATTCTGAACAAATAGACAAACCCTGCCGTGAGTATGAGGCTCTGAGGGTTAGGTATACTAGTAATTATATCCATCATGGATATAGTGATACT... | CTATTATCTCAAATATTTAGGTACCATTTTCACACTTCTACTTGACATTTAAAGAAAATGAAGTACAGAGTAAAAAGTAACAATTTAACCAAGGATATGCTGTGGGATACACTGAAGAGCTGGATGTTGAACCTTGGTCTGACTAAGGCAAGTCTGTGTCCCACAGTGGGGGAGAGGGCTGGCAGGGGACGACTCCCGGTTTGTTGTTACTAGTTAATAAAACCCCAAATTCTGAACAAATAGACAAACCCTGCCGTGAGTATGAGGCTCTGAGGGTTAGGTATACTAGTAATTATATCCATCATGGATATAGTGATACT... |
Task1_train_7764 | This variant lies on Chromosome 3 and affects the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; CLOVES syndrome | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... |
Task1_train_7765 | Given this context: Chromosome 3, gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PIK3CA related overgrowth syndrome | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... |
Task1_train_7766 | A mutation found in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cowden syndrome | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... |
Task1_train_7767 | Mutation context: Chromosome 3, Gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neoplasm | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... | TTGTTCAACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCA... |
Task1_train_7768 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CLAPO syndrome | ACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCT... | ACTCTTGCTTATCTTTTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCT... |
Task1_train_7769 | A variant was discovered in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cowden syndrome | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... |
Task1_train_7770 | Consider a variant on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; PIK3CA related overgrowth syndrome | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... |
Task1_train_7771 | This variant lies on Chromosome 3 and affects the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... |
Task1_train_7772 | A mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cowden syndrome 5 | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... |
Task1_train_7773 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neoplasm | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... | TTTTTTTTCTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTT... |
Task1_train_7774 | Gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PIK3CA related overgrowth syndrome | CTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTC... | CTTTGTTTTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTC... |
Task1_train_7775 | Here’s a variant in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Global developmental delay | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... |
Task1_train_7776 | This mutation is located in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypospadias | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... |
Task1_train_7777 | This variant affects the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Macrocephaly | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... |
Task1_train_7778 | A mutation on Chromosome 3 affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cowden syndrome 5 | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... | TTTTGATGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGAGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTAT... |
Task1_train_7779 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cowden syndrome 5 | GGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAAC... | GGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAAC... |
Task1_train_7780 | This sequence change occurs on Chromosome 3, altering PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; PIK3CA related overgrowth syndrome | GGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAAC... | GGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAAC... |
Task1_train_7781 | This is a variant in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | CACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAACCTGG... | CACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTTATAGAACCTGG... |
Task1_train_7782 | This mutation occurs in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cowden syndrome | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... |
Task1_train_7783 | This sequence change occurs on Chromosome 3, altering PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Angioosteohypertrophic syndrome | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... |
Task1_train_7784 | Located on Chromosome 3, this mutation impacts PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; PIK3CA related overgrowth syndrome | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... | CTCTTACCTACAATATCTGATAGACTAATCAAATATAGTAGGTTATCTGGGCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAAC... |
Task1_train_7785 | A variant was discovered on Chromosome 3, affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cowden syndrome 5 | GCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAACAGAGAGAGTCATGGATCTTATTTATGTGTAGATTCATTTCAGTCAGAAGT... | GCCTTTTTGATTCATGTCTCTAGCTTAACTTTCATTTTTTTCTTATTTGGTATCTCTCACTTTGCCTTTTGATATACTCTTACAGTTTCGCTCACTGAGTAAAAGAAAATATAAACAGCAAGAAGTAAACTTGTGTTTTATGGATTTTGATAACATCTTCTAAAAGACCCCCCAAGATTGTTGATGTCTAAAAAAATTAAGGGCCTTCAACTCATAATAATACTTAATAGTTCTTAAAATATTACAAACTGATTGGAACATTGCACTAACAGAGAGAGTCATGGATCTTATTTATGTGTAGATTCATTTCAGTCAGAAGT... |
Task1_train_7786 | This variant impacts the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cowden syndrome 5 | TATGGAACTATTTTTAACACCTTGATATTATTCCATAAGGTTTTATTTAAGAAATGTCATTTGTGGGATGACTTAGATTTGTTATATCTCAGTGTTGTTATTCTTTTAAAAATGATTGATAGGAATGTTTGCTGCCTTTGCTCTAAATTGCTGAATATATTATTTTTTATATATTAAAAATATTCAGGACTGTCAACTTTTAATATATATGCATTCATCAAAAATTTGTTTTAACCTAGCGGTACTTTTTTTACTTTATTGTGATCTTCCAAATCTACAGAGTTCCCTGTTTGCAAAAAAAACATGTTCATGCTGTGTAT... | TATGGAACTATTTTTAACACCTTGATATTATTCCATAAGGTTTTATTTAAGAAATGTCATTTGTGGGATGACTTAGATTTGTTATATCTCAGTGTTGTTATTCTTTTAAAAATGATTGATAGGAATGTTTGCTGCCTTTGCTCTAAATTGCTGAATATATTATTTTTTATATATTAAAAATATTCAGGACTGTCAACTTTTAATATATATGCATTCATCAAAAATTTGTTTTAACCTAGCGGTACTTTTTTTACTTTATTGTGATCTTCCAAATCTACAGAGTTCCCTGTTTGCAAAAAAAACATGTTCATGCTGTGTAT... |
Task1_train_7787 | Here is a variant affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cowden syndrome | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... |
Task1_train_7788 | A variant was discovered on Chromosome 3, affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cowden syndrome 5 | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... |
Task1_train_7789 | A mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... |
Task1_train_7790 | The variant affects gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; PIK3CA related overgrowth syndrome | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... | TCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAA... |
Task1_train_7791 | Here is a genetic alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Noonan syndrome 8 | CTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATAT... | CTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATAT... |
Task1_train_7792 | Here is a genetic alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | CTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATAT... | CTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATAT... |
Task1_train_7793 | Consider a variant on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; PIK3CA related overgrowth syndrome | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7794 | Mutation context: Chromosome 3, Gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital macrodactylia | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7795 | This variant affects the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epidermal nevus | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7796 | A mutation on Chromosome 3 affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hepatocellular carcinoma | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7797 | Consider this mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Ovarian neoplasm | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7798 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Colorectal cancer | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7799 | Consider this mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Familial cancer of breast | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
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