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_9200 | This sequence variant lies in ERCC8, ERCC8-AS1 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit| ERCC8 antisense RNA 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CCACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTG... | CCACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTG... |
Task1_train_9201 | This is a variant in ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Cockayne syndrome type 1 | CAAAGCTGAGGAGTTGAGAGTCTGCGTTGGTGACATATAGCAAAACCCAAACTAATGTTCCTGTGGTGTGACCCTGACTGTGTTCTCTATCCTGACTTCTTTTGTTTTCTGCTCATTTTCTAAGTCTGATTCTCCCATCTTCCTGACAGTTATGTGAGATACTAAATATTCTTCCAATAAATTTCGCTTAAGATAAGCAGATTGATTTCCTTTTGCTCCTAAGAATATTGACTTCTACAGAGATTTTTCCAGTGATACTACTTTTAAATGAAACAAATTTTTAATGTAGTGATAACAAATAAAAGCTCACTTATATTTTA... | CAAAGCTGAGGAGTTGAGAGTCTGCGTTGGTGACATATAGCAAAACCCAAACTAATGTTCCTGTGGTGTGACCCTGACTGTGTTCTCTATCCTGACTTCTTTTGTTTTCTGCTCATTTTCTAAGTCTGATTCTCCCATCTTCCTGACAGTTATGTGAGATACTAAATATTCTTCCAATAAATTTCGCTTAAGATAAGCAGATTGATTTCCTTTTGCTCCTAAGAATATTGACTTCTACAGAGATTTTTCCAGTGATACTACTTTTAAATGAAACAAATTTTTAATGTAGTGATAACAAATAAAAGCTCACTTATATTTTA... |
Task1_train_9202 | This mutation occurs in NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CTGCAGTGAGCTGTAACTGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACCCTGCCTCAAAAAAAAAATATTTTTTTAATTTTTAAATACTTTATTTGTCTTAAACGTATAAGCAATCCTCACTTGGCACAGTCTGATATGAATTTCAGTTACCACAGTTTATTAACCGTGAGAAATAGCATAAAAGTTTGCTACTAGCTTTTCAGTTCACAAATCATTACATAAATAACATATGAATCAAAATTGACCAATTTGCAATTTTACTTCTTTCAAAGTCTATGGGTGATTGGTCACTGTGCATCTGTTATTCAGTTC... | CTGCAGTGAGCTGTAACTGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACCCTGCCTCAAAAAAAAAATATTTTTTTAATTTTTAAATACTTTATTTGTCTTAAACGTATAAGCAATCCTCACTTGGCACAGTCTGATATGAATTTCAGTTACCACAGTTTATTAACCGTGAGAAATAGCATAAAAGTTTGCTACTAGCTTTTCAGTTCACAAATCATTACATAAATAACATATGAATCAAAATTGACCAATTTGCAATTTTACTTCTTTCAAAGTCTATGGGTGATTGGTCACTGTGCATCTGTTATTCAGTTC... |
Task1_train_9203 | The variant affects gene KIF2A (kinesin family member 2A), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GGTTTATCTAGGAATATTACTGTCTTTGTAATTGCTTGAATACTATATCTGATTGCCCTTTTTCATAAAAATGCCTAGAAAGGAAAAAATTAGAGTTAATGAGACTAAGAATTGAAGGTGTTACAAAGGAAATACTTTTGAGACCAACTCTTTTTGTCTTCACCAAGTGTACTGGGTAGTCAGTTGTAAAAAAAAAAAGGATCAAATTAAAGGACATATGAATACTAGATAGAGATATTTGTGAAGAATATGTTTAAAGGGGAATCATAATTGTTAATTGTAGAATTTTTTTTTAGCTTTCTGAAGAGTCCACTTTTCCT... | GGTTTATCTAGGAATATTACTGTCTTTGTAATTGCTTGAATACTATATCTGATTGCCCTTTTTCATAAAAATGCCTAGAAAGGAAAAAATTAGAGTTAATGAGACTAAGAATTGAAGGTGTTACAAAGGAAATACTTTTGAGACCAACTCTTTTTGTCTTCACCAAGTGTACTGGGTAGTCAGTTGTAAAAAAAAAAAGGATCAAATTAAAGGACATATGAATACTAGATAGAGATATTTGTGAAGAATATGTTTAAAGGGGAATCATAATTGTTAATTGTAGAATTTTTTTTTAGCTTTCTGAAGAGTCCACTTTTCCT... |
Task1_train_9204 | Consider a variant on Chromosome 5 in gene KIF2A (kinesin family member 2A). Determine its clinical classification and disease relevance. | Pathogenic; Complex cortical dysplasia with other brain malformations 3 | GAATATTACTGTCTTTGTAATTGCTTGAATACTATATCTGATTGCCCTTTTTCATAAAAATGCCTAGAAAGGAAAAAATTAGAGTTAATGAGACTAAGAATTGAAGGTGTTACAAAGGAAATACTTTTGAGACCAACTCTTTTTGTCTTCACCAAGTGTACTGGGTAGTCAGTTGTAAAAAAAAAAAGGATCAAATTAAAGGACATATGAATACTAGATAGAGATATTTGTGAAGAATATGTTTAAAGGGGAATCATAATTGTTAATTGTAGAATTTTTTTTTAGCTTTCTGAAGAGTCCACTTTTCCTTTTCATTCCCT... | GAATATTACTGTCTTTGTAATTGCTTGAATACTATATCTGATTGCCCTTTTTCATAAAAATGCCTAGAAAGGAAAAAATTAGAGTTAATGAGACTAAGAATTGAAGGTGTTACAAAGGAAATACTTTTGAGACCAACTCTTTTTGTCTTCACCAAGTGTACTGGGTAGTCAGTTGTAAAAAAAAAAAGGATCAAATTAAAGGACATATGAATACTAGATAGAGATATTTGTGAAGAATATGTTTAAAGGGGAATCATAATTGTTAATTGTAGAATTTTTTTTTAGCTTTCTGAAGAGTCCACTTTTCCTTTTCATTCCCT... |
Task1_train_9205 | This is a variant in PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; SHORT syndrome | GGTGCTGGATGCCACAGGAAATTAAATACCCGGGAAGTTTCATTATTGACAGAGATGTCAGTGAAGTGCCAGAGTGAAGTGGCACTGCCTAAGAACAGAGTGTGAAGGCACTCTATCTATTAAGCACAACTCTAAGAATTCTTGCCTTAAACACAATAAGAAAACAATGCCATTTTATGTTAGCTTTGGGAAGGGGGAGTAAGGTTGGAGAAACTCTTTTGAGATCATGAGTTTCTGTGCTCATTTGTCAGAGAGATTGTAATGTTTGGTTGAAAAAATAAAAACTTAGTACCACAGATACACCAATAGTGAAAGTGATA... | GGTGCTGGATGCCACAGGAAATTAAATACCCGGGAAGTTTCATTATTGACAGAGATGTCAGTGAAGTGCCAGAGTGAAGTGGCACTGCCTAAGAACAGAGTGTGAAGGCACTCTATCTATTAAGCACAACTCTAAGAATTCTTGCCTTAAACACAATAAGAAAACAATGCCATTTTATGTTAGCTTTGGGAAGGGGGAGTAAGGTTGGAGAAACTCTTTTGAGATCATGAGTTTCTGTGCTCATTTGTCAGAGAGATTGTAATGTTTGGTTGAAAAAATAAAAACTTAGTACCACAGATACACCAATAGTGAAAGTGATA... |
Task1_train_9206 | Given this variant in gene OCLN (occludin) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pseudo-TORCH syndrome 1 | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCACACACCACCACGCCCAACTAGTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCAGGATAGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAGAAGAAATTAATTTTAATATATTTCACTTAATCTTGTATATCTAAAACATTACTTCATCACGTGATTGATGTAAAAAATGAATGATTCAGGAAATATTTTACATTCTT... | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCACACACCACCACGCCCAACTAGTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCAGGATAGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAGAAGAAATTAATTTTAATATATTTCACTTAATCTTGTATATCTAAAACATTACTTCATCACGTGATTGATGTAAAAAATGAATGATTCAGGAAATATTTTACATTCTT... |
Task1_train_9207 | Gene SMN1 (survival of motor neuron 1, telomeric) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Kugelberg-Welander disease | AATCTAAGCAAGCTTTATAAAAACATACTTTTTTTTTTACTTTTTTTTTTTTTTCTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGGTTTTCATGTTTATCTGTGAGATGTACCTTTGGCACATTACTTTCCTGACATGAGATTTAAAATTTTTTTTTTTATCTTGTGACAATTTAACTTTTTTGACACATAAAAATTGTACATATTTATTTGTTTGAGATGGAGTCGCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGATTCTCCTG... | AATCTAAGCAAGCTTTATAAAAACATACTTTTTTTTTTACTTTTTTTTTTTTTTCTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGGTTTTCATGTTTATCTGTGAGATGTACCTTTGGCACATTACTTTCCTGACATGAGATTTAAAATTTTTTTTTTTATCTTGTGACAATTTAACTTTTTTGACACATAAAAATTGTACATATTTATTTGTTTGAGATGGAGTCGCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGATTCTCCTG... |
Task1_train_9208 | This genomic variant is located on Chromosome 5, within the SMN1 (survival of motor neuron 1, telomeric) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spinal muscular atrophy | AATCTAAGCAAGCTTTATAAAAACATACTTTTTTTTTTACTTTTTTTTTTTTTTCTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGGTTTTCATGTTTATCTGTGAGATGTACCTTTGGCACATTACTTTCCTGACATGAGATTTAAAATTTTTTTTTTTATCTTGTGACAATTTAACTTTTTTGACACATAAAAATTGTACATATTTATTTGTTTGAGATGGAGTCGCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGATTCTCCTG... | AATCTAAGCAAGCTTTATAAAAACATACTTTTTTTTTTACTTTTTTTTTTTTTTCTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGGTTTTCATGTTTATCTGTGAGATGTACCTTTGGCACATTACTTTCCTGACATGAGATTTAAAATTTTTTTTTTTATCTTGTGACAATTTAACTTTTTTGACACATAAAAATTGTACATATTTATTTGTTTGAGATGGAGTCGCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGATTCTCCTG... |
Task1_train_9209 | This variant affects the gene SMN1 (survival of motor neuron 1, telomeric) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spinal muscular atrophy, type II | AAATTTGGTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTA... | AAATTTGGTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTA... |
Task1_train_9210 | With a mutation on Chromosome 5 in gene SMN1 (survival of motor neuron 1, telomeric), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Kugelberg-Welander disease | CTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTATTTTTAGTAGACACAAGGTTCTTACCCTGTTGCCTAGGCTGGT... | CTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTATTTTTAGTAGACACAAGGTTCTTACCCTGTTGCCTAGGCTGGT... |
Task1_train_9211 | Here is a variant affecting SMN1 (survival of motor neuron 1, telomeric) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spinal muscular atrophy | TTCCAGTATACACTGAAACTAGAAGTCGACTAAAGAATTACCAAGAGAATTCTATAAAATAGAGATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGC... | TTCCAGTATACACTGAAACTAGAAGTCGACTAAAGAATTACCAAGAGAATTCTATAAAATAGAGATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGC... |
Task1_train_9212 | Given this variant in gene SMN1 (survival of motor neuron 1, telomeric) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TTCTATAAAATAGAGATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGAT... | TTCTATAAAATAGAGATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGAT... |
Task1_train_9213 | Given this variant in gene SMN1 (survival of motor neuron 1, telomeric) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGC... | GATTGAAATGGGGCTCGATGTGGGATGGGTTGGTGATATTGCAGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGC... |
Task1_train_9214 | A variant was discovered in gene SMN1 (survival of motor neuron 1, telomeric), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Kugelberg-Welander disease | AGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGA... | AGGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGA... |
Task1_train_9215 | The gene SMN1 (survival of motor neuron 1, telomeric), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Kugelberg-Welander disease | GGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAG... | GGGAGAAGTAATCTGAGTAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAG... |
Task1_train_9216 | This is a variant in SMN1 (survival of motor neuron 1, telomeric), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Werdnig-Hoffmann disease | TAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGAGCAAATCACGAGG... | TAAAGGAGGAAAAGAACTGATTTGGGAAAACGATAGTTTTAGTAGTGAGTTTGAGTATGAATTAAGTTGAGATTGAATTTGAATTAAGTTGAGGTTGAATATGAATTAAGTTGAGGTTGAGTTTGAGGTATGAATTAAGATGTGAAATTGATCATTGGAAATGTTAGATTGAGAAAAGTCACAGCTGGATTAATAGCTTCAGAAGTGTGTTTGCAGACAGTTGCAACTAAAGTAATAAGAATAGATGGCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGAGCAAATCACGAGG... |
Task1_train_9217 | Here is a genetic alteration in SMN1 (survival of motor neuron 1, telomeric) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Kugelberg-Welander disease | GGCAGTCATTTTCAAAAAACAAGCATGACTCACCAAAAGTTTTAAGATTTTCTGTGATAATGTTCTTATTGAGGCTTACATTATATTACAGTTTCTTGAATCTAAAATGATGTACCCTCTTAGGATATATACATCATGCTTCATTGGTCTCAGGGGGCTGATTTTTATAAGGAGAGATTTGCTAGTTTTCACAATATGTCCTCTAAGTTGGCATGTATAGCTAAACAGGCTTTCATAAAAATATACAATTTAGTTAATGAAATTTGGGATATAGTCTTTTATGATTGAAATAATTTTGCTAAATAGACTGTCTCTGATTT... | GGCAGTCATTTTCAAAAAACAAGCATGACTCACCAAAAGTTTTAAGATTTTCTGTGATAATGTTCTTATTGAGGCTTACATTATATTACAGTTTCTTGAATCTAAAATGATGTACCCTCTTAGGATATATACATCATGCTTCATTGGTCTCAGGGGGCTGATTTTTATAAGGAGAGATTTGCTAGTTTTCACAATATGTCCTCTAAGTTGGCATGTATAGCTAAACAGGCTTTCATAAAAATATACAATTTAGTTAATGAAATTTGGGATATAGTCTTTTATGATTGAAATAATTTTGCTAAATAGACTGTCTCTGATTT... |
Task1_train_9218 | Chromosome 5 houses a mutation in gene SMN1 (survival of motor neuron 1, telomeric). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spinal muscular atrophy | CCGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAGGTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATCAGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGAATCACCTGAAGTCGGGAG... | CCGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAGGTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATCAGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGAATCACCTGAAGTCGGGAG... |
Task1_train_9219 | The gene SMN1 (survival of motor neuron 1, telomeric), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Werdnig-Hoffmann disease | CGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAGGTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATCAGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGAATCACCTGAAGTCGGGAGT... | CGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAGGTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATCAGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGAATCACCTGAAGTCGGGAGT... |
Task1_train_9220 | Gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | TGCTCTGGCCTTTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTTCTAGGCAGCCTCTCTAAATCCAGAGGCAGTGATGGTCATAGGCAGTTCCTGGTTTATATT... | TGCTCTGGCCTTTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTTCTAGGCAGCCTCTCTAAATCCAGAGGCAGTGATGGTCATAGGCAGTTCCTGGTTTATATT... |
Task1_train_9221 | A variant found in Chromosome 5 affects MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | CTAAGACTGCTGTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACTTAGGCAAGTCACCAGAGTGGTAAAATAAACTATTATTAGCTGGTAAAATGCAAG... | CTAAGACTGCTGTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACTTAGGCAAGTCACCAGAGTGGTAAAATAAACTATTATTAGCTGGTAAAATGCAAG... |
Task1_train_9222 | A mutation on Chromosome 5 affecting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | GCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCA... | GCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCA... |
Task1_train_9223 | This alteration in MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Methylcrotonyl-CoA carboxylase deficiency | GCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCA... | GCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCA... |
Task1_train_9224 | Chromosome 5 houses a mutation in gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | ACAGGGAGAAAAAGGCAGTAGCAGCAGCCTCATCCTTTAGAGAATTCTAAATTCTGACGCACGCTTGACCGAATGTTGAGAAAGGGCTTTGAAGGGTTTGCACGTAGTGTGGGGTGTAGTGCTGTAGCTTTTAGTAGCTTAGAGTAGTTGAAAAAAACAGATAGTAAGACAAGTTTTTGAAGGCGCTTTTTGTTCTCCTGTCTTTTGTTTATCTTTTGAACTTGTCATTTAGTCAAATGAGCTGTTTTAATTTTCTCTTTGACTTCTATCATCTTTGCACCTATCACACTATCAAACGTTGTGGGTGTTCAATAAATATT... | ACAGGGAGAAAAAGGCAGTAGCAGCAGCCTCATCCTTTAGAGAATTCTAAATTCTGACGCACGCTTGACCGAATGTTGAGAAAGGGCTTTGAAGGGTTTGCACGTAGTGTGGGGTGTAGTGCTGTAGCTTTTAGTAGCTTAGAGTAGTTGAAAAAAACAGATAGTAAGACAAGTTTTTGAAGGCGCTTTTTGTTCTCCTGTCTTTTGTTTATCTTTTGAACTTGTCATTTAGTCAAATGAGCTGTTTTAATTTTCTCTTTGACTTCTATCATCTTTGCACCTATCACACTATCAAACGTTGTGGGTGTTCAATAAATATT... |
Task1_train_9225 | Chromosome 5 houses a mutation in gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | TATATTTTTATTTTTTGTAGAAACAGGTGTCTCACTGTATTGCTCAGGTTGGTTTAAAACTCCTTGCCTCAAGCAGTCCTCCTGCCTTGCCCTTCCGAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGACTAAATTTTTAAGCAGTTTGACTATTTAAAAAAAGTAAAGCTGTAGGCAATATATTATGTTAAGGGTGTAGATTCTGGAATTTAACTTCCGTTTGCCTCCCCTATTCCCCTTGGGACTTAGACAAACTGCTTACCCTATCTGAGTCTCATTTCCTCATAGATAAAGTGAAAATTGTGAATAGTGC... | TATATTTTTATTTTTTGTAGAAACAGGTGTCTCACTGTATTGCTCAGGTTGGTTTAAAACTCCTTGCCTCAAGCAGTCCTCCTGCCTTGCCCTTCCGAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGACTAAATTTTTAAGCAGTTTGACTATTTAAAAAAAGTAAAGCTGTAGGCAATATATTATGTTAAGGGTGTAGATTCTGGAATTTAACTTCCGTTTGCCTCCCCTATTCCCCTTGGGACTTAGACAAACTGCTTACCCTATCTGAGTCTCATTTCCTCATAGATAAAGTGAAAATTGTGAATAGTGC... |
Task1_train_9226 | This variant impacts the gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | CAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCATTACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGCTCTCAAACTC... | CAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCATTACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGCTCTCAAACTC... |
Task1_train_9227 | A genomic change on Chromosome 5 affects MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | CAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCATTACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGCTCTCAAACTC... | CAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCATTACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGCTCTCAAACTC... |
Task1_train_9228 | A variant has been detected on Chromosome 5 in MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 2 deficiency | ATAAATGTTAACAGACAGTAAAGTTTTCTGTGGATCTGTAGATTTTTTTTTTTTTTTTTTGAGACAGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTTGTCTCGAACTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCAAAGTACTGGGATTACAGGCAT... | ATAAATGTTAACAGACAGTAAAGTTTTCTGTGGATCTGTAGATTTTTTTTTTTTTTTTTTGAGACAGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTTGTCTCGAACTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCAAAGTACTGGGATTACAGGCAT... |
Task1_train_9229 | This variant lies on Chromosome 5 and affects the gene MAP1B (microtubule associated protein 1B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hearing loss, autosomal dominant 83 | AGAAGAAGGAAGTGAAAAAGGAAGAAAAGGAACCCAAAAAAGAAATTAAGAAGCTCCCTAAAGACGCAAAGAAATCATCTACTCCTCTGTCTGAAGCAAAAAAACCAGCTGCTTTAAAACCAAAAGTACCCAAGAAGGAAGAGTCTGTCAAGAAAGATTCTGTTGCTGCCGGAAAGCCAAAGGAGAAGGGGAAAATAAAAGTCATTAAGAAGGAAGGCAAGGCCGCAGAGGCTGTCGCTGCAGCTGTCGGCACTGGAGCCACCACAGCAGCTGTCATGGCGGCAGCTGGAATAGCAGCCATTGGCCCTGCCAAAGAACTC... | AGAAGAAGGAAGTGAAAAAGGAAGAAAAGGAACCCAAAAAAGAAATTAAGAAGCTCCCTAAAGACGCAAAGAAATCATCTACTCCTCTGTCTGAAGCAAAAAAACCAGCTGCTTTAAAACCAAAAGTACCCAAGAAGGAAGAGTCTGTCAAGAAAGATTCTGTTGCTGCCGGAAAGCCAAAGGAGAAGGGGAAAATAAAAGTCATTAAGAAGGAAGGCAAGGCCGCAGAGGCTGTCGCTGCAGCTGTCGGCACTGGAGCCACCACAGCAGCTGTCATGGCGGCAGCTGGAATAGCAGCCATTGGCCCTGCCAAAGAACTC... |
Task1_train_9230 | Given this context: Chromosome 5, gene HEXB (hexosaminidase subunit beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Sandhoff disease | CCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGGAGAAGGTCAGAAAGATCTTCTGACTCTCTTTTCTTCAGTTCCAAGTATTCAACATGCCAAAGTGCCACACTTTGGGGTCTCATTTTCTGAGGCCCAATAATCATTACATTTCTTTTCTTTCTTTTTTTTT... | CCAGGCTGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAACAGTGGCTCTAGTTTCTGTGACCCATTTTGAAAAAGAGGAATTCTAGTTTCTATGGCTTGCTCTGGGGAAGAAAGGGGAGCAGGAGAAAGAAAGGCAGGAGAAGGTCAGAAAGATCTTCTGACTCTCTTTTCTTCAGTTCCAAGTATTCAACATGCCAAAGTGCCACACTTTGGGGTCTCATTTTCTGAGGCCCAATAATCATTACATTTCTTTTCTTTCTTTTTTTTT... |
Task1_train_9231 | A mutation in HEXB (hexosaminidase subunit beta), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Sandhoff disease | CTTGCTTTGAAACAGTATGCTTTTTGCAGGCAGAGAGTTTGGCTGTTAGATGCATAGCTGCTTCTTTAGCTTCTAGAACAGCGTTCATCACATGCTAGTCACTCATTTTTAAAAATAAACAAATAGCTTCACTCCTTCATTTCCTGGAAGGCTAAACTAACCCACATACCTTTGACATACTGCCTCACAGCCCTTTGAGTTTTCTGTTAGAATTTTACTACCTAGGGTCAAGGTTCTAAGCCAGCTTCCAACTCTGATCTCAAAGCTGCCAGCAGCTTTAATTTCTTTTTTAAAAAAATTTTAATTAAGGAAAAAATACA... | CTTGCTTTGAAACAGTATGCTTTTTGCAGGCAGAGAGTTTGGCTGTTAGATGCATAGCTGCTTCTTTAGCTTCTAGAACAGCGTTCATCACATGCTAGTCACTCATTTTTAAAAATAAACAAATAGCTTCACTCCTTCATTTCCTGGAAGGCTAAACTAACCCACATACCTTTGACATACTGCCTCACAGCCCTTTGAGTTTTCTGTTAGAATTTTACTACCTAGGGTCAAGGTTCTAAGCCAGCTTCCAACTCTGATCTCAAAGCTGCCAGCAGCTTTAATTTCTTTTTTAAAAAAATTTTAATTAAGGAAAAAATACA... |
Task1_train_9232 | A mutation found in HEXB (hexosaminidase subunit beta) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | GTTTAATAGTCAAATTATCCCAGCTTTGGTCACTGGAAGTCCTTCAAGTTGCCTCTTACATCCCTTGCAGGTTCCCTTTAATTTTGGAGCACTGTCTTACTTTTTGGCACATGATGTTTCAGGCCTGTCTTCCCTGTCCCGGTCTTTTCTGTGTCCTCAGACTTTTCTTCAAGGAACCCTTTTAGTGGTGAACAACATTTTGAAACCAATATCTAGGCTCTAGGTGTGCTCATTGCTACTAGGATGTCATTGCTTGTAGACCCTCTGAGCAGAGAGAGCTAGAAAACGTGTGTACCTGTGTATGTATACATTTGTATGAA... | GTTTAATAGTCAAATTATCCCAGCTTTGGTCACTGGAAGTCCTTCAAGTTGCCTCTTACATCCCTTGCAGGTTCCCTTTAATTTTGGAGCACTGTCTTACTTTTTGGCACATGATGTTTCAGGCCTGTCTTCCCTGTCCCGGTCTTTTCTGTGTCCTCAGACTTTTCTTCAAGGAACCCTTTTAGTGGTGAACAACATTTTGAAACCAATATCTAGGCTCTAGGTGTGCTCATTGCTACTAGGATGTCATTGCTTGTAGACCCTCTGAGCAGAGAGAGCTAGAAAACGTGTGTACCTGTGTATGTATACATTTGTATGAA... |
Task1_train_9233 | Located on Chromosome 5, this mutation impacts HEXB (hexosaminidase subunit beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Sandhoff disease | GTTTAATAGTCAAATTATCCCAGCTTTGGTCACTGGAAGTCCTTCAAGTTGCCTCTTACATCCCTTGCAGGTTCCCTTTAATTTTGGAGCACTGTCTTACTTTTTGGCACATGATGTTTCAGGCCTGTCTTCCCTGTCCCGGTCTTTTCTGTGTCCTCAGACTTTTCTTCAAGGAACCCTTTTAGTGGTGAACAACATTTTGAAACCAATATCTAGGCTCTAGGTGTGCTCATTGCTACTAGGATGTCATTGCTTGTAGACCCTCTGAGCAGAGAGAGCTAGAAAACGTGTGTACCTGTGTATGTATACATTTGTATGAA... | GTTTAATAGTCAAATTATCCCAGCTTTGGTCACTGGAAGTCCTTCAAGTTGCCTCTTACATCCCTTGCAGGTTCCCTTTAATTTTGGAGCACTGTCTTACTTTTTGGCACATGATGTTTCAGGCCTGTCTTCCCTGTCCCGGTCTTTTCTGTGTCCTCAGACTTTTCTTCAAGGAACCCTTTTAGTGGTGAACAACATTTTGAAACCAATATCTAGGCTCTAGGTGTGCTCATTGCTACTAGGATGTCATTGCTTGTAGACCCTCTGAGCAGAGAGAGCTAGAAAACGTGTGTACCTGTGTATGTATACATTTGTATGAA... |
Task1_train_9234 | This variant affects gene HEXB (hexosaminidase subunit beta) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Sandhoff disease | AATAAATATGGCTTTTACAGGGAAGCTATTCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACA... | AATAAATATGGCTTTTACAGGGAAGCTATTCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTAAGGAGTTGTATTTTATTTCATTTTATCTTATTTTTTATTTTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTAGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGATCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGACTACA... |
Task1_train_9235 | A genetic alteration is present in HEXB (hexosaminidase subunit beta) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Sandhoff disease, adult form | TAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCC... | TAACTACTAGTATTACCTTTCTAGTGTAGTTAGTGACCACTTTGGACCTCATAGTTCCAAGCTAGGTTTGGTAGAAATAAGACTAAAATGCAAGTCTCAGCTTTAGTTAACTGAACCTATGTGGTATCCATATATAAGCAAAAGTTAAATATTCAAACCTAAGGTTGATGAAACTTTTAAGTCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCC... |
Task1_train_9236 | Consider this mutation in HEXB (hexosaminidase subunit beta) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Sandhoff disease | TCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATAC... | TCCCTAAAATGAGTATCACATGGCACTAACTCTGAAGAAAAGAGGAAAAAGAAAATGCAGATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATAC... |
Task1_train_9237 | This sequence change occurs on Chromosome 5, altering HEXB (hexosaminidase subunit beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Sandhoff disease | GATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGAAGCAGTTGGTCCAAGTGTTGTGG... | GATTTTTTTTAAGGATCTTAGAAAATTATGTTCCTAGTAATAATGCCTTAAACTTTCAATTTCATCTACTGTTCTAGGCCTAATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTAAGTGAAGCAGTTGGTCCAAGTGTTGTGG... |
Task1_train_9238 | This is a variant in GFM2 (GTP dependent ribosome recycling factor mitochondrial 2), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Combined oxidative phosphorylation deficiency 39 | GACATCATTTGTTCTCACTCATAAGTGGGATCTAAGCTATGAGGATGCAAAGGCATTAGAGTGATACAATGAACTTTGGGGACTCAGGAGAAAGGGCAGGAGGGGAGTGAGGGATAAAAGACTACACATTGGGTACAGTGTACACTACTTGGGTAATGGGTGCACCAAAATCTCAGAAACCACCCCTAAAGAACTTATGTAACCAACCACCTGTTCTCCAAAAGCCTATTGAAATAAAAAATAAAATAAAATAAGCCTTAGGGGAGAAAACTGTTAACCTAGTTGCTTTTTAGAATATAAAGTCTAAGATTATCTTTAAT... | GACATCATTTGTTCTCACTCATAAGTGGGATCTAAGCTATGAGGATGCAAAGGCATTAGAGTGATACAATGAACTTTGGGGACTCAGGAGAAAGGGCAGGAGGGGAGTGAGGGATAAAAGACTACACATTGGGTACAGTGTACACTACTTGGGTAATGGGTGCACCAAAATCTCAGAAACCACCCCTAAAGAACTTATGTAACCAACCACCTGTTCTCCAAAAGCCTATTGAAATAAAAAATAAAATAAAATAAGCCTTAGGGGAGAAAACTGTTAACCTAGTTGCTTTTTAGAATATAAAGTCTAAGATTATCTTTAAT... |
Task1_train_9239 | Located on Chromosome 5, this mutation impacts GFM2 (GTP dependent ribosome recycling factor mitochondrial 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial disease | GACATCATTTGTTCTCACTCATAAGTGGGATCTAAGCTATGAGGATGCAAAGGCATTAGAGTGATACAATGAACTTTGGGGACTCAGGAGAAAGGGCAGGAGGGGAGTGAGGGATAAAAGACTACACATTGGGTACAGTGTACACTACTTGGGTAATGGGTGCACCAAAATCTCAGAAACCACCCCTAAAGAACTTATGTAACCAACCACCTGTTCTCCAAAAGCCTATTGAAATAAAAAATAAAATAAAATAAGCCTTAGGGGAGAAAACTGTTAACCTAGTTGCTTTTTAGAATATAAAGTCTAAGATTATCTTTAAT... | GACATCATTTGTTCTCACTCATAAGTGGGATCTAAGCTATGAGGATGCAAAGGCATTAGAGTGATACAATGAACTTTGGGGACTCAGGAGAAAGGGCAGGAGGGGAGTGAGGGATAAAAGACTACACATTGGGTACAGTGTACACTACTTGGGTAATGGGTGCACCAAAATCTCAGAAACCACCCCTAAAGAACTTATGTAACCAACCACCTGTTCTCCAAAAGCCTATTGAAATAAAAAATAAAATAAAATAAGCCTTAGGGGAGAAAACTGTTAACCTAGTTGCTTTTTAGAATATAAAGTCTAAGATTATCTTTAAT... |
Task1_train_9240 | A mutation in HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal recessive 28 | TTGGTACACAAAAAATATTATTTTGACCTTATATCAGGACTGGCATAACTGGCAGGATATTCTACTTATATAAAAAATCCTTGGTTAATTGGCAAATTGCTTTTCTCCTAACAAGTGGGATTAGATCAATAGTGTCACTGGGGTTTTGCTCTGTTAGAGTAGCCTGTCCTCTCCTTATTTAATAATAAGGCACTACTGCTTGACAAAAAGGAATTGGAAACACATATGTTTTATCAATTGTGTATTAAACACTACCATTCTGCCTGGCATTGTGATATGGGGACATGAGAGAAGGCAAGAGCTTTGCTCTTGAGGGACTT... | TTGGTACACAAAAAATATTATTTTGACCTTATATCAGGACTGGCATAACTGGCAGGATATTCTACTTATATAAAAAATCCTTGGTTAATTGGCAAATTGCTTTTCTCCTAACAAGTGGGATTAGATCAATAGTGTCACTGGGGTTTTGCTCTGTTAGAGTAGCCTGTCCTCTCCTTATTTAATAATAAGGCACTACTGCTTGACAAAAAGGAATTGGAAACACATATGTTTTATCAATTGTGTATTAAACACTACCATTCTGCCTGGCATTGTGATATGGGGACATGAGAGAAGGCAAGAGCTTTGCTCTTGAGGGACTT... |
Task1_train_9241 | This alteration in HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TGGTACACAAAAAATATTATTTTGACCTTATATCAGGACTGGCATAACTGGCAGGATATTCTACTTATATAAAAAATCCTTGGTTAATTGGCAAATTGCTTTTCTCCTAACAAGTGGGATTAGATCAATAGTGTCACTGGGGTTTTGCTCTGTTAGAGTAGCCTGTCCTCTCCTTATTTAATAATAAGGCACTACTGCTTGACAAAAAGGAATTGGAAACACATATGTTTTATCAATTGTGTATTAAACACTACCATTCTGCCTGGCATTGTGATATGGGGACATGAGAGAAGGCAAGAGCTTTGCTCTTGAGGGACTTA... | TGGTACACAAAAAATATTATTTTGACCTTATATCAGGACTGGCATAACTGGCAGGATATTCTACTTATATAAAAAATCCTTGGTTAATTGGCAAATTGCTTTTCTCCTAACAAGTGGGATTAGATCAATAGTGTCACTGGGGTTTTGCTCTGTTAGAGTAGCCTGTCCTCTCCTTATTTAATAATAAGGCACTACTGCTTGACAAAAAGGAATTGGAAACACATATGTTTTATCAATTGTGTATTAAACACTACCATTCTGCCTGGCATTGTGATATGGGGACATGAGAGAAGGCAAGAGCTTTGCTCTTGAGGGACTTA... |
Task1_train_9242 | Mutation context: Chromosome 5, Gene HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TTGTTTTTTTGGGTTTTTTTTTGGTTTGGTTTTTTTTTTTTTGAGAAGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAATTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATTCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTTGTCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCCCCC... | TTGTTTTTTTGGGTTTTTTTTTGGTTTGGTTTTTTTTTTTTTGAGAAGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAATTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATTCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTTGTCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCCCCC... |
Task1_train_9243 | Given this variant in gene HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal recessive 28 | CTTGAATGAGGTGTCTAGAATAGTCAAATTCATAGAGACAGAAAGTAGAATGGTGGTTATCATGGGTTTGGGGAAGGGGAAAATGGGTGGTTGTTATTTAGTAAGTACAGAGTTTTTGTTTTGTGAGATGAAAAGAGTTCTGGGAGCAAAGACATGGAACCAACCCAAATGCCCATCAATGATAGACCGGATAAAGAAAATGTGGCACATATACAGCATGCAATACTGTGCAGCCATAAAAAAGGAATGAGATCATGTCCTTTGTAGGGACATGGATGAGCCTGGAAATATCATTCTCAGCAAACTAACACAGGAACAGA... | CTTGAATGAGGTGTCTAGAATAGTCAAATTCATAGAGACAGAAAGTAGAATGGTGGTTATCATGGGTTTGGGGAAGGGGAAAATGGGTGGTTGTTATTTAGTAAGTACAGAGTTTTTGTTTTGTGAGATGAAAAGAGTTCTGGGAGCAAAGACATGGAACCAACCCAAATGCCCATCAATGATAGACCGGATAAAGAAAATGTGGCACATATACAGCATGCAATACTGTGCAGCCATAAAAAAGGAATGAGATCATGTCCTTTGTAGGGACATGGATGAGCCTGGAAATATCATTCTCAGCAAACTAACACAGGAACAGA... |
Task1_train_9244 | Consider this mutation in HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Limb-girdle muscular dystrophy | ATGTATACCTATGTAACAAACCTGCATGTTCTGTACATATATCCCAGAACTTAAAAAAGAGTTCTGGGGATTTGTTGCATGGCAGTGTGAATATACTTACCACTGTACACCTAAAAATGGGTAGGATGGTAAATTTTATGTGTTTCACCACAATAAAATTATGTTTTTAATTGCCAATAAATATGTTTTGGATTATTGAGGTATGAGTTGTTAATTGAATTAATGCCATTTAATTGGAAGTCATTGGGAAGCTTATTTGTATTTTATGTAATATAAAGCTCAACGACATAAGAGTCGAATCACAAGATCAACTCTTATGA... | ATGTATACCTATGTAACAAACCTGCATGTTCTGTACATATATCCCAGAACTTAAAAAAGAGTTCTGGGGATTTGTTGCATGGCAGTGTGAATATACTTACCACTGTACACCTAAAAATGGGTAGGATGGTAAATTTTATGTGTTTCACCACAATAAAATTATGTTTTTAATTGCCAATAAATATGTTTTGGATTATTGAGGTATGAGTTGTTAATTGAATTAATGCCATTTAATTGGAAGTCATTGGGAAGCTTATTTGTATTTTATGTAATATAAAGCTCAACGACATAAGAGTCGAATCACAAGATCAACTCTTATGA... |
Task1_train_9245 | This is a variant in CERT1 (ceramide transporter 1), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCCTGGCCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCACTTGAACCAGGGAGCCGGAGGTTGCAGCGAGCCGAGATCACGCGACTGCACTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAGAGAGAGAGAGGAAAAGGCAAAAAGAAAAGAGAAGGGGAGAAAAAGAGAAATGAGAGGGAGAAAGAGAAAGAGATCAACTGGTTGATTTCAGATCTGAAGGATTTAACATATA... | TCCTGGCCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCACTTGAACCAGGGAGCCGGAGGTTGCAGCGAGCCGAGATCACGCGACTGCACTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAGAGAGAGAGAGGAAAAGGCAAAAAGAAAAGAGAAGGGGAGAAAAAGAGAAATGAGAGGGAGAAAGAGAAAGAGATCAACTGGTTGATTTCAGATCTGAAGGATTTAACATATA... |
Task1_train_9246 | This sequence variant lies in POLK (DNA polymerase kappa) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Malignant tumor of prostate | CAAGTCACGTGGCATGAGGAACTAGAACCCACTTTTGATAAGAGTAACTTGTAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAAT... | CAAGTCACGTGGCATGAGGAACTAGAACCCACTTTTGATAAGAGTAACTTGTAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAAT... |
Task1_train_9247 | A mutation in POLK (DNA polymerase kappa), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Malignant tumor of prostate | GTCACGTGGCATGAGGAACTAGAACCCACTTTTGATAAGAGTAACTTGTAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAATAAT... | GTCACGTGGCATGAGGAACTAGAACCCACTTTTGATAAGAGTAACTTGTAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAATAAT... |
Task1_train_9248 | A sequence alteration has been identified in POLK (DNA polymerase kappa) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Malignant tumor of prostate | TAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAATAATCCCTTCATTTGTTTCTGTTTTGCATTTCTTTGAAATTTCACTTGAGAT... | TAAAGTATTGTGGCTGTGATCTACAATATACCACAAATCTAAAAGTTAGAGAAATTCTTATTTAAAAGTTTGTTTGTCCTCTGCTATAGATCTAGCTTTTATGTCAATTATATTAAACTTATTTACTAAACCATTGGTTTTGTTTCTAGTGCTATCCACATTTTCTGTTCCAGAACACTGACCAAGGATTAGTATAGTTCTGAGTACTATCAAGATGTTTTAAGTGCCATTTGAAAATCATTAGACGAAAATTCATATTATTCTGAAATAATCCCTTCATTTGTTTCTGTTTTGCATTTCTTTGAAATTTCACTTGAGAT... |
Task1_train_9249 | Mutation context: Chromosome 5, Gene POLK (DNA polymerase kappa). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Malignant tumor of prostate | GGATAACATGTTTTAAAATTCTTTCAGGCTAGTTTAATTCAAAATATAATGTTTGAATTAGAGTCAACAGATTGGATGTAGGAGGAAAGAAAAGAAGAATAAAGAATCACTCCTAGGTTGTGGTGTCAGCAGTTGTGTAGAGAGACAAGAGGAATGATAGTTTCTTTTTTATCCCTACCTTGTTCTTTGTTCAGAACCTAAGAGAAATGCCAGTAGTCAGGTTGTTGTGGAAAGAAAGATGGCCGTATTCCATAATTCACCCTTTAAGGAAGGAGATGTAATGATTCTTCGAAAGCCTTAAACTACATTTCTTTTCTTTT... | GGATAACATGTTTTAAAATTCTTTCAGGCTAGTTTAATTCAAAATATAATGTTTGAATTAGAGTCAACAGATTGGATGTAGGAGGAAAGAAAAGAAGAATAAAGAATCACTCCTAGGTTGTGGTGTCAGCAGTTGTGTAGAGAGACAAGAGGAATGATAGTTTCTTTTTTATCCCTACCTTGTTCTTTGTTCAGAACCTAAGAGAAATGCCAGTAGTCAGGTTGTTGTGGAAAGAAAGATGGCCGTATTCCATAATTCACCCTTTAAGGAAGGAGATGTAATGATTCTTCGAAAGCCTTAAACTACATTTCTTTTCTTTT... |
Task1_train_9250 | A variant has been detected on Chromosome 5 in POLK (DNA polymerase kappa). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Malignant tumor of prostate | AATATAGAAAGAACTCATAATCAATAAAAAGGAACAGTAAGCCAACAGAAGAAATGAACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAA... | AATATAGAAAGAACTCATAATCAATAAAAAGGAACAGTAAGCCAACAGAAGAAATGAACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAA... |
Task1_train_9251 | This alteration in POLK (DNA polymerase kappa) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Malignant tumor of prostate | AGTAAGCCAACAGAAGAAATGAACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAACAAAACAAATTTATTCTCTATCATTCTGAAAGTCA... | AGTAAGCCAACAGAAGAAATGAACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAACAAAACAAATTTATTCTCTATCATTCTGAAAGTCA... |
Task1_train_9252 | Here’s a variant in POLK (DNA polymerase kappa) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Malignant tumor of prostate | AACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAACAAAACAAATTTATTCTCTATCATTCTGAAAGTCAGCGGTTCTAAAGTTAATGTGT... | AACAAAGTTCTAAATAATTAACAGAAAAGGAAATACAAATGGCTCTTAAAACAAGTGAAATTACTACCATTTTCATTTATAATTAAAGAAATACAGATTGAAAGTTCTCTCAGATACCTTTCTTTCACTAGTCAGGTTGGCAAAGATTCTAACATACTCTATTGGCAAGACTGTAGGAGTGAAAAATGTGTAAACTTTAGAGGGAGTACATTAGGTTTTTTTATTGCTATTAAAACAAATTTCTACAAATTTAGTGGCTCAAAACAAAACAAATTTATTCTCTATCATTCTGAAAGTCAGCGGTTCTAAAGTTAATGTGT... |
Task1_train_9253 | A change on Chromosome 5 affects gene POLK (DNA polymerase kappa). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Malignant tumor of prostate | AAAGAGGAAGTGTCCTTCTCATAACATCCTATCATGGGGTGTATAATAGCCACATGATGTCATGGTTGATATTAACCTTCATCACTTGGTTAGTGTTTGCTAGGCTTCTCCACTGTGAAGTTAGTGTTTTTCCCTTTGGAAGTAAGTCAGTAAATCTAACTACCCTCAGATGAGAGAGAGCAGGAATTAACTTCCTCCTCCAGGGGATACTAAAATATACATAACATAAAATTTACATTTTAACCATTTTTAAGTGTACAGTTCATATTGTTTTATAACCATCACCACCACCCATCTCTAGAACTGTTTCATTGTCTCCA... | AAAGAGGAAGTGTCCTTCTCATAACATCCTATCATGGGGTGTATAATAGCCACATGATGTCATGGTTGATATTAACCTTCATCACTTGGTTAGTGTTTGCTAGGCTTCTCCACTGTGAAGTTAGTGTTTTTCCCTTTGGAAGTAAGTCAGTAAATCTAACTACCCTCAGATGAGAGAGAGCAGGAATTAACTTCCTCCTCCAGGGGATACTAAAATATACATAACATAAAATTTACATTTTAACCATTTTTAAGTGTACAGTTCATATTGTTTTATAACCATCACCACCACCCATCTCTAGAACTGTTTCATTGTCTCCA... |
Task1_train_9254 | A variant affecting Chromosome 5, within the gene POLK (DNA polymerase kappa), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Malignant tumor of prostate | CATCACTTGGTTAGTGTTTGCTAGGCTTCTCCACTGTGAAGTTAGTGTTTTTCCCTTTGGAAGTAAGTCAGTAAATCTAACTACCCTCAGATGAGAGAGAGCAGGAATTAACTTCCTCCTCCAGGGGATACTAAAATATACATAACATAAAATTTACATTTTAACCATTTTTAAGTGTACAGTTCATATTGTTTTATAACCATCACCACCACCCATCTCTAGAACTGTTTCATTGTCTCCACTGAAACCCTGCACTCATAAAACACTAAGTGTAAAGGGAATTCTTACATTAAATTGTTTGGCATAGCATCTGGCAATGC... | CATCACTTGGTTAGTGTTTGCTAGGCTTCTCCACTGTGAAGTTAGTGTTTTTCCCTTTGGAAGTAAGTCAGTAAATCTAACTACCCTCAGATGAGAGAGAGCAGGAATTAACTTCCTCCTCCAGGGGATACTAAAATATACATAACATAAAATTTACATTTTAACCATTTTTAAGTGTACAGTTCATATTGTTTTATAACCATCACCACCACCCATCTCTAGAACTGTTTCATTGTCTCCACTGAAACCCTGCACTCATAAAACACTAAGTGTAAAGGGAATTCTTACATTAAATTGTTTGGCATAGCATCTGGCAATGC... |
Task1_train_9255 | A variant was discovered on Chromosome 5, affecting POLK (DNA polymerase kappa). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Malignant tumor of prostate | ATCCCGATAAACCCATCATAAATTGAAAGTATTGTAAATTGACTTATTATGTTTTCAATTTACAGCGGGTTTATCTGGATACAATCCTACTGTAACTCAATGAGCACCTGTATTCTCGCCTTCATTTTATTTCTTAAACCTGTTTACGAAGTTCTTCCTTTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAG... | ATCCCGATAAACCCATCATAAATTGAAAGTATTGTAAATTGACTTATTATGTTTTCAATTTACAGCGGGTTTATCTGGATACAATCCTACTGTAACTCAATGAGCACCTGTATTCTCGCCTTCATTTTATTTCTTAAACCTGTTTACGAAGTTCTTCCTTTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAG... |
Task1_train_9256 | Consider this mutation in POLK (DNA polymerase kappa) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Malignant tumor of prostate | TTATCTGGATACAATCCTACTGTAACTCAATGAGCACCTGTATTCTCGCCTTCATTTTATTTCTTAAACCTGTTTACGAAGTTCTTCCTTTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAGAAAGCAAATTCAGTGCATGTAGAGTATATTACGTTGTAATACTTCTTTGTGGATCTGGGGCAACACCCCC... | TTATCTGGATACAATCCTACTGTAACTCAATGAGCACCTGTATTCTCGCCTTCATTTTATTTCTTAAACCTGTTTACGAAGTTCTTCCTTTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAGAAAGCAAATTCAGTGCATGTAGAGTATATTACGTTGTAATACTTCTTTGTGGATCTGGGGCAACACCCCC... |
Task1_train_9257 | Consider this mutation in POLK (DNA polymerase kappa) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Malignant tumor of prostate | TTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAGAAAGCAAATTCAGTGCATGTAGAGTATATTACGTTGTAATACTTCTTTGTGGATCTGGGGCAACACCCCCTGTTCAAACACATTAATATTTCTGTAGCAAAACAAAATATTCAGAGACTGTAAAGACTGATGACATTAATTTAGTCATCAGGTATCACT... | TTGCTGCTGCCATTTGTCTTAGTTATTAGACCCTGATGTGTGAAGCCATGATCATTAGTTTAATTCCAGTAAGGGTCAATTAAAGTTGTTATTTTCCTTATAACTTAATGAAATTCTTGTGGCCAGGTGTGTTTCAAAATTCAAAACTTTTCAGATTTTAGAAAGCAAATTCAGTGCATGTAGAGTATATTACGTTGTAATACTTCTTTGTGGATCTGGGGCAACACCCCCTGTTCAAACACATTAATATTTCTGTAGCAAAACAAAATATTCAGAGACTGTAAAGACTGATGACATTAATTTAGTCATCAGGTATCACT... |
Task1_train_9258 | Here is a genetic alteration in POLK (DNA polymerase kappa) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Malignant tumor of prostate | GACATTAATTTAGTCATCAGGTATCACTTGTTGCTTACAATTTTCAGAACTTTTTGGATTTTGGAATTACAGATAAAGGATTGTGACATTGTGAAATCACATCTCCAGCCACTACATGGTAAAAAGTAACAAGCCATGTTTCCAAAGTGTACTGGTTGAAAGTATATATGTGGATCACCACTCCAAATGCACATTTTACTAGTAAGGAGTGGGTCACTAGCCATAATTTTATTTATGAAAGATATAGCACACACTGAAATCAACTGAATAAAGTGTTAATTGAAAGAGCCAGGCTGGGCGCGGTGGCTCACGCCTGTAAT... | GACATTAATTTAGTCATCAGGTATCACTTGTTGCTTACAATTTTCAGAACTTTTTGGATTTTGGAATTACAGATAAAGGATTGTGACATTGTGAAATCACATCTCCAGCCACTACATGGTAAAAAGTAACAAGCCATGTTTCCAAAGTGTACTGGTTGAAAGTATATATGTGGATCACCACTCCAAATGCACATTTTACTAGTAAGGAGTGGGTCACTAGCCATAATTTTATTTATGAAAGATATAGCACACACTGAAATCAACTGAATAAAGTGTTAATTGAAAGAGCCAGGCTGGGCGCGGTGGCTCACGCCTGTAAT... |
Task1_train_9259 | This variant affects gene POLK (DNA polymerase kappa) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant tumor of prostate | AAGTATATATGTGGATCACCACTCCAAATGCACATTTTACTAGTAAGGAGTGGGTCACTAGCCATAATTTTATTTATGAAAGATATAGCACACACTGAAATCAACTGAATAAAGTGTTAATTGAAAGAGCCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACTGCATCTCTACAAAAACTACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGG... | AAGTATATATGTGGATCACCACTCCAAATGCACATTTTACTAGTAAGGAGTGGGTCACTAGCCATAATTTTATTTATGAAAGATATAGCACACACTGAAATCAACTGAATAAAGTGTTAATTGAAAGAGCCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACTGCATCTCTACAAAAACTACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGG... |
Task1_train_9260 | Given this context: Chromosome 5, gene POLK (DNA polymerase kappa) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Malignant tumor of prostate | TTACTGGTATTAATTTAATGGTATTATGTGTCACATATGAATTAAAATCCTACATCATTATACTAACTCCAAATAGTTAATATTTAATGATATTCTTTTATAAAGGAAGGTAAATCTGTACTTATAATACCAGCTTTGAAATGTTACTTATAGTTTCTCTCTAGCCAACCTTTTGTATATGTCATAGCACTAGACAAAATGTTTTTATGCATTGTGAGTGAATTGGCTTTGTTCAATTTGAAATTGATTGTGATTGGTTTAATTTAGGTGTTCGGATATCTAGTTTTCCCAATGAAGAGGACAGGAAACACCAACAAAGG... | TTACTGGTATTAATTTAATGGTATTATGTGTCACATATGAATTAAAATCCTACATCATTATACTAACTCCAAATAGTTAATATTTAATGATATTCTTTTATAAAGGAAGGTAAATCTGTACTTATAATACCAGCTTTGAAATGTTACTTATAGTTTCTCTCTAGCCAACCTTTTGTATATGTCATAGCACTAGACAAAATGTTTTTATGCATTGTGAGTGAATTGGCTTTGTTCAATTTGAAATTGATTGTGATTGGTTTAATTTAGGTGTTCGGATATCTAGTTTTCCCAATGAAGAGGACAGGAAACACCAACAAAGG... |
Task1_train_9261 | Located on Chromosome 5, this mutation impacts PDE8B (phosphodiesterase 8B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TCCCTCCATTCCCTCCCTTTATTTCCTCCCACAAATGTTGACTACAAGAGCACTTCCTAAAAAGCCTCCCTCTGCCTGCTAAACACCATCTCAGAATCTGCTTCTAGGAGGACCCAACCTGTGCAGAAATTTTATGAGCAATTTGCCTGTCCATTAAAAAATACAGCATAGACTTTTTCCAGGTTAGCTGGAGATGGAGTTTTTTTGTATCAAAAAAAGAGAGCTAAACTGAGAAGAGAAGCAAAGGTAGAAGAATAAGGTTAGACTCTCCCTGTATAACTGAATTTGGGATTGGGAATGATATCTTGCTTCTCTATGAA... | TCCCTCCATTCCCTCCCTTTATTTCCTCCCACAAATGTTGACTACAAGAGCACTTCCTAAAAAGCCTCCCTCTGCCTGCTAAACACCATCTCAGAATCTGCTTCTAGGAGGACCCAACCTGTGCAGAAATTTTATGAGCAATTTGCCTGTCCATTAAAAAATACAGCATAGACTTTTTCCAGGTTAGCTGGAGATGGAGTTTTTTTGTATCAAAAAAAGAGAGCTAAACTGAGAAGAGAAGCAAAGGTAGAAGAATAAGGTTAGACTCTCCCTGTATAACTGAATTTGGGATTGGGAATGATATCTTGCTTCTCTATGAA... |
Task1_train_9262 | This mutation occurs in PDE8B (phosphodiesterase 8B) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pigmented nodular adrenocortical disease, primary, 3 | CCTGGTGTGAAAGAAGGGCCATGACTTCTACCCAAATTTACAACTTAATAGGGAAGGCAGAATGAACACACATGAAAAGGTATGAGAATATGGCTAACAAATAAAGAAAATAATATATTCTCTAATATTTTCTATTCATTCCTCAAATAGTTAATAAACAGTCCTGAGTATCCAAAGATCAATTCAAAATAGCCTTTGCCCTTGAGGAGTTGAATGTCCACTGGGAGAGACAGAGATAAACAAAAATTTAAATTCGGTGTAATAAGTCACTGAAAGTCTGCACAGGCATCAGTGGCAGCTCTTGGGAGTGGACTAGGTAG... | CCTGGTGTGAAAGAAGGGCCATGACTTCTACCCAAATTTACAACTTAATAGGGAAGGCAGAATGAACACACATGAAAAGGTATGAGAATATGGCTAACAAATAAAGAAAATAATATATTCTCTAATATTTTCTATTCATTCCTCAAATAGTTAATAAACAGTCCTGAGTATCCAAAGATCAATTCAAAATAGCCTTTGCCCTTGAGGAGTTGAATGTCCACTGGGAGAGACAGAGATAAACAAAAATTTAAATTCGGTGTAATAAGTCACTGAAAGTCTGCACAGGCATCAGTGGCAGCTCTTGGGAGTGGACTAGGTAG... |
Task1_train_9263 | A variant found in Chromosome 5 affects AP3B1 (adaptor related protein complex 3 subunit beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hermansky-Pudlak syndrome 2 | TATTTCTCTGTTAAAGTCATACTATGAAATTTATTATATTTATTTCTTCTATTCTACATAGGCCAACTAAAGGTCAACTCATCAACTCATTATGCCAGCTCAAAGAAAAATTAATACTGTTCTACTGCTTTAACCTTTGGATAACATTCTCAACCTTCAGACAATTCATGTATCAGCTGCTTGACACTTCCTAAACTAATTTTTTTTAACTAGGTAAAAAAGGTTGAATTACAAGCAACAAAAATAACACAATAATTCCTTGGCAATATATTAATGTCACACATTATATAATAAAAATTAGGATACTTTGTGTTCTTTAA... | TATTTCTCTGTTAAAGTCATACTATGAAATTTATTATATTTATTTCTTCTATTCTACATAGGCCAACTAAAGGTCAACTCATCAACTCATTATGCCAGCTCAAAGAAAAATTAATACTGTTCTACTGCTTTAACCTTTGGATAACATTCTCAACCTTCAGACAATTCATGTATCAGCTGCTTGACACTTCCTAAACTAATTTTTTTTAACTAGGTAAAAAAGGTTGAATTACAAGCAACAAAAATAACACAATAATTCCTTGGCAATATATTAATGTCACACATTATATAATAAAAATTAGGATACTTTGTGTTCTTTAA... |
Task1_train_9264 | This sequence change occurs on Chromosome 5, altering AP3B1 (adaptor related protein complex 3 subunit beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hermansky-Pudlak syndrome 2 | AGAAAAATTGAGAGCAAGGAGGTTAACTCACTTTCCCACAGGAATTAGTAAAGAACCCCAGTTATCTGAATCCTAATTCAATGTATCTTTTCCACCAGAAAAGTATCCAGAATACAATTCTTAACTGCTTTTTTTGTTAACTCCACATTTTAAAGTATTAAATATATTTTGCATAATTGCTAAATACAATTAGAAGGCCTCTCTCACTTTTTCTTGTATATATGAGAAAGAAACAGATAATATTAGAAAAGAATGTTAATTCTTTTATCTCAATGGCCAGCATTTTTTTTAAAGATTGAGAAAAAGAGTATTTATATAGC... | AGAAAAATTGAGAGCAAGGAGGTTAACTCACTTTCCCACAGGAATTAGTAAAGAACCCCAGTTATCTGAATCCTAATTCAATGTATCTTTTCCACCAGAAAAGTATCCAGAATACAATTCTTAACTGCTTTTTTTGTTAACTCCACATTTTAAAGTATTAAATATATTTTGCATAATTGCTAAATACAATTAGAAGGCCTCTCTCACTTTTTCTTGTATATATGAGAAAGAAACAGATAATATTAGAAAAGAATGTTAATTCTTTTATCTCAATGGCCAGCATTTTTTTTAAAGATTGAGAAAAAGAGTATTTATATAGC... |
Task1_train_9265 | The gene ARSB (arylsulfatase B), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis type 6 | CATGGTGCAGGCATTTTGCTGTTGACCTGAACAACAAAATGGGCCTTATGCTCTGTGATGAGATAAGTGAGTAAGGGGTGAACCAAGAGGGGTGGTTCACTTGGAGTGCCTGAACATGATCCTTCACCGACAGGGAGAAGCCTTGGCCAACAGAACCATTAATCACTGTCTGCTCCCTTCATTTGCGTAAGAAATGTGATTCACTCCAATAAAACTGGCTATTGGCAGAGGGGAATCGAACGTCTGACTTGTGAGTCTAAAAGAGCCAGCTGTTCCAGCCTCCAGGATTCAGTGAGAACTTCCTATTTCAAGTTAAGTTC... | CATGGTGCAGGCATTTTGCTGTTGACCTGAACAACAAAATGGGCCTTATGCTCTGTGATGAGATAAGTGAGTAAGGGGTGAACCAAGAGGGGTGGTTCACTTGGAGTGCCTGAACATGATCCTTCACCGACAGGGAGAAGCCTTGGCCAACAGAACCATTAATCACTGTCTGCTCCCTTCATTTGCGTAAGAAATGTGATTCACTCCAATAAAACTGGCTATTGGCAGAGGGGAATCGAACGTCTGACTTGTGAGTCTAAAAGAGCCAGCTGTTCCAGCCTCCAGGATTCAGTGAGAACTTCCTATTTCAAGTTAAGTTC... |
Task1_train_9266 | This sequence variant lies in ARSB (arylsulfatase B) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mucopolysaccharidosis type 6 | CCATTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATAAGAAATAATCTATATATTTTGCAACTGGAAATTGGTCAAAGTATGGTATTTCCAGAGTGTTGAATACTATGATTATGTTCAGCAGGGACTATAAACTTAA... | CCATTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATAAGAAATAATCTATATATTTTGCAACTGGAAATTGGTCAAAGTATGGTATTTCCAGAGTGTTGAATACTATGATTATGTTCAGCAGGGACTATAAACTTAA... |
Task1_train_9267 | This gene mutation involves ARSB (arylsulfatase B) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis type 6 | TTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATAAGAAATAATCTATATATTTTGCAACTGGAAATTGGTCAAAGTATGGTATTTCCAGAGTGTTGAATACTATGATTATGTTCAGCAGGGACTATAAACTTAAATG... | TTAGAGAGGAACCCATAGACTCCACGTTGTGAGAGGTTGAGCGGCCTGGCTGAACACTTCTTCTATCCATTCCTGAACTCACAGGACTTTAAACTTTAATGTTTAAACTTGAATAGCTATCAAACTTCCTTTGTAAAAACTAATCTTAGGCTGCTGAACCCTACTATTTTTTAACATTAATTATTAATTACAGAAAAATTGATAATATAAAAAGATAAGAAATAATCTATATATTTTGCAACTGGAAATTGGTCAAAGTATGGTATTTCCAGAGTGTTGAATACTATGATTATGTTCAGCAGGGACTATAAACTTAAATG... |
Task1_train_9268 | A variant has been detected on Chromosome 5 in ARSB (arylsulfatase B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Metachromatic leukodystrophy | GCTTCAAGATATCAGCATAGGAGAGTGATCGCCAAAAGTGGGACGCAGCTGAGGACAGACACCTCTATCTGTGTTTTCACTTCTACATGTGCTCGATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCAGAGTAGCTGGACTACAGGCACCCACCACTGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTATTATTTTTTAATGAATGTCA... | GCTTCAAGATATCAGCATAGGAGAGTGATCGCCAAAAGTGGGACGCAGCTGAGGACAGACACCTCTATCTGTGTTTTCACTTCTACATGTGCTCGATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCAGAGTAGCTGGACTACAGGCACCCACCACTGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTATTATTTTTTAATGAATGTCA... |
Task1_train_9269 | This mutation is located in gene ARSB (arylsulfatase B) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis type 6 | GCTTCAAGATATCAGCATAGGAGAGTGATCGCCAAAAGTGGGACGCAGCTGAGGACAGACACCTCTATCTGTGTTTTCACTTCTACATGTGCTCGATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCAGAGTAGCTGGACTACAGGCACCCACCACTGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTATTATTTTTTAATGAATGTCA... | GCTTCAAGATATCAGCATAGGAGAGTGATCGCCAAAAGTGGGACGCAGCTGAGGACAGACACCTCTATCTGTGTTTTCACTTCTACATGTGCTCGATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCAGAGTAGCTGGACTACAGGCACCCACCACTGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTATTATTTTTTAATGAATGTCA... |
Task1_train_9270 | An alteration has been detected in ARSB (arylsulfatase B) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mucopolysaccharidosis type 6 | CCTCCTGTCTGACATCCTTGCATCTTGATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTT... | CCTCCTGTCTGACATCCTTGCATCTTGATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTT... |
Task1_train_9271 | Here is a genetic alteration in ARSB (arylsulfatase B) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis type 6 | TTGATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTC... | TTGATTTTAACCCTGAATCCAATGAGGCATTACAGAGCCATGTGCTTCAGCTGCATTGTTTTGGCCCCCATATAATTACTTTTACTGAATTGCACTTTGGTGCTCTGGCCCTAGCTTGAACAGAAGAAAATACCTCAAAACATCTACAAGAAAACCACCTAACGTATTATTAAAATGACATTTTTAAAGATGTTGTCCACCTTACCTTCTCCTTCTCCCAAAGGAGAAATTTCTGTCAGGCCTAAGAGCCAGAAAATGCTTTTGCTTTTCCTGAACATCTGGTTTCCATTTATCTTGTAAATAATGTAACTCTTATAGTC... |
Task1_train_9272 | A genetic alteration is present in ARSB, LOC129994126 (arylsulfatase B| ATAC-STARR-seq lymphoblastoid silent region 16127) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis type 6 | AGTGCCCAGCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTT... | AGTGCCCAGCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTT... |
Task1_train_9273 | Given a variant located on Chromosome 5 and affecting ARSB, LOC129994126 (arylsulfatase B| ATAC-STARR-seq lymphoblastoid silent region 16127), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | GCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGA... | GCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGA... |
Task1_train_9274 | The variant affects gene ARSB, LOC129994126 (arylsulfatase B| ATAC-STARR-seq lymphoblastoid silent region 16127), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mucopolysaccharidosis type 6 | GCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGA... | GCTTCTCTACTCATCCTTTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGA... |
Task1_train_9275 | Here is a variant affecting ARSB, LOC129994126 (arylsulfatase B| ATAC-STARR-seq lymphoblastoid silent region 16127) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mucopolysaccharidosis type 6 | TTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTG... | TTACTTCATAACCATGGGGTACTCTAAATACTAAAGTTTGTTCTCCAAGACATAATTTTGGTGACTGGTGGGGGAGGATGTTAGGGGACAAAAGCAACTGATTACGGGAATGGGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTG... |
Task1_train_9276 | The gene ARSB, LOC129994126 (arylsulfatase B| ATAC-STARR-seq lymphoblastoid silent region 16127) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis type 6 | GGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTG... | GGTTTTTTATTTTATTTTGTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGACTCAGTCTCCCGAGTAGCTAGGACTATAGACGCATGCCACCACACTCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTTCCCGGCCCAGGAATGGGTTTCTG... |
Task1_train_9277 | Given a variant located on Chromosome 5 and affecting DHFR (dihydrofolate reductase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Constitutional megaloblastic anemia with severe neurologic disease | TATTCTCTTCTTGTCTCACAAGTTCTCTCTTTCATCTGTATTTCACTATATTAGTCTGTTTATTTTTTAAATCGGGAAGAATGGTGTTAATAAAAGACTTTATGTTTGAACAGAAACCTATATAACCACAAGAGGTTAACTGATAGAGACAACGGGACTTAAACTAAGTGAGTAGCTGTGGGGAAAGGGATAGGGGAGGTGGAGAATGACCAAAGTTTATATTTGGACAGTAGAAAGCAAATCTAAGTTCCCCAGCGCACAGAGATCTGGAGAGAAAGCCGCTCCAGAACTGAGCAATGTGTTTTCCAGGGACAAAGTAT... | TATTCTCTTCTTGTCTCACAAGTTCTCTCTTTCATCTGTATTTCACTATATTAGTCTGTTTATTTTTTAAATCGGGAAGAATGGTGTTAATAAAAGACTTTATGTTTGAACAGAAACCTATATAACCACAAGAGGTTAACTGATAGAGACAACGGGACTTAAACTAAGTGAGTAGCTGTGGGGAAAGGGATAGGGGAGGTGGAGAATGACCAAAGTTTATATTTGGACAGTAGAAAGCAAATCTAAGTTCCCCAGCGCACAGAGATCTGGAGAGAAAGCCGCTCCAGAACTGAGCAATGTGTTTTCCAGGGACAAAGTAT... |
Task1_train_9278 | Gene DHFR (dihydrofolate reductase), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Constitutional megaloblastic anemia with severe neurologic disease | AGGCAGCAAGATGCACATCAACAAATCTGCCCCGTCGCCCAGAGGCAATCAATGCAAATATTCTATACACTTTCTTCTCGGTTTTTACCTATGCCATTCTAGGAAGAACTTGGGAGAAAATCTATGTAAGCCTGAATCCCCTTAGCCTATATAGCTGTGTAGTTCTTTCCTTCCCATAGTGTTAAACTTGACTAGGATATAGTCCTTGGTTATTCAGATACTGTATCTAGGTGTTGCTTTGAAGGCATTTTGTAGATGTGATTACAATTCAGTTTTTTTTTTAAATTTTTTTGAGACAGGATCTCACTCTGTTGCCTAGG... | AGGCAGCAAGATGCACATCAACAAATCTGCCCCGTCGCCCAGAGGCAATCAATGCAAATATTCTATACACTTTCTTCTCGGTTTTTACCTATGCCATTCTAGGAAGAACTTGGGAGAAAATCTATGTAAGCCTGAATCCCCTTAGCCTATATAGCTGTGTAGTTCTTTCCTTCCCATAGTGTTAAACTTGACTAGGATATAGTCCTTGGTTATTCAGATACTGTATCTAGGTGTTGCTTTGAAGGCATTTTGTAGATGTGATTACAATTCAGTTTTTTTTTTAAATTTTTTTGAGACAGGATCTCACTCTGTTGCCTAGG... |
Task1_train_9279 | A change on Chromosome 5 affects gene MSH3 (mutS homolog 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AACATTTAATAACGACTATAATAATAACTGATTCAGACAGCAATGATCAATAGATTATAAAACCTTTGGATGAAAGATTGTTGGAGAAAAGGATATTCATATATCTCAAAGTGTCATGCCACAGGTTATTTATTAATTACAAAGGGAAAAGGTATAGTGAAGAAATCTAGTGGGTACCCTCTTCAACCAGATAATCAAATTTGGCATCCCCAGTTATGTAAAACTGATATCACGTCCCACCTGATGTGATGCACTGGGAAGGACCCATCACCTACATATACATGGAATATTCCTGGTATCGACGAAAAGAGTCAAACTCT... | AACATTTAATAACGACTATAATAATAACTGATTCAGACAGCAATGATCAATAGATTATAAAACCTTTGGATGAAAGATTGTTGGAGAAAAGGATATTCATATATCTCAAAGTGTCATGCCACAGGTTATTTATTAATTACAAAGGGAAAAGGTATAGTGAAGAAATCTAGTGGGTACCCTCTTCAACCAGATAATCAAATTTGGCATCCCCAGTTATGTAAAACTGATATCACGTCCCACCTGATGTGATGCACTGGGAAGGACCCATCACCTACATATACATGGAATATTCCTGGTATCGACGAAAAGAGTCAAACTCT... |
Task1_train_9280 | Given a variant located on Chromosome 5 and affecting RPS23 (ribosomal protein S23), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Brachycephaly, trichomegaly, and developmental delay | TTCTTCCTCCATTGGTTTTAAGATAAATCCGTTGGCCATACTTCTGAATGTCTATTTATGGATTCCCTATCTTATTTTATTGATGTGTATTTTTGTCTCTCCTCCATGGATACATGAAGGAAAGGGCCTTGGACACAAGGCAGTGGGGAAAGGGGCTGGGGGGCCACACAGAGAAAGGAGAAGGCACTAAGATCAGGCTCAGCAGCTTCTGGATCTGAGGCGCCGGAGATTATTTATGGGTCAATCTGGCAGCCCCTGGGCCTCAGGTAGGACTGCTTAGCAGTGAAAAGGGCGTCCTGGGTGCAGCCAACAGGGTACAG... | TTCTTCCTCCATTGGTTTTAAGATAAATCCGTTGGCCATACTTCTGAATGTCTATTTATGGATTCCCTATCTTATTTTATTGATGTGTATTTTTGTCTCTCCTCCATGGATACATGAAGGAAAGGGCCTTGGACACAAGGCAGTGGGGAAAGGGGCTGGGGGGCCACACAGAGAAAGGAGAAGGCACTAAGATCAGGCTCAGCAGCTTCTGGATCTGAGGCGCCGGAGATTATTTATGGGTCAATCTGGCAGCCCCTGGGCCTCAGGTAGGACTGCTTAGCAGTGAAAAGGGCGTCCTGGGTGCAGCCAACAGGGTACAG... |
Task1_train_9281 | A variant was discovered on Chromosome 5, affecting RPS23 (ribosomal protein S23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Brachycephaly, trichomegaly, and developmental delay | GTGCAGCCAACAGGGTACAGCTGCAAGCCATTGTTGAAGGTGTCTTGACGTATCAGAGAAGGCAGGTAACCAGGCCACATCCCTGGGCGCCCGCGCTGTCCCACTCCCTTCCTGGTGCGCCCCGCCTCGCGGTCACAAGGGCCCCACCGCCCGGGGAGAGCTGCCCACCCCGCGCCTGACGCCCAGGGCCTGGAATCGCGCTGCAACCGCGGCCTCTTTCCCTGGTTCTGGCCAGGTGAGCGAGGCCTAGCAATCTCTCCCGCATCACAAAGGATTGGGTCAGTTAAGGCTCATCCGAAAGCATCTGTTGAGCCCCTGGG... | GTGCAGCCAACAGGGTACAGCTGCAAGCCATTGTTGAAGGTGTCTTGACGTATCAGAGAAGGCAGGTAACCAGGCCACATCCCTGGGCGCCCGCGCTGTCCCACTCCCTTCCTGGTGCGCCCCGCCTCGCGGTCACAAGGGCCCCACCGCCCGGGGAGAGCTGCCCACCCCGCGCCTGACGCCCAGGGCCTGGAATCGCGCTGCAACCGCGGCCTCTTTCCCTGGTTCTGGCCAGGTGAGCGAGGCCTAGCAATCTCTCCCGCATCACAAAGGATTGGGTCAGTTAAGGCTCATCCGAAAGCATCTGTTGAGCCCCTGGG... |
Task1_train_9282 | The gene XRCC4 (X-ray repair cross complementing 4) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Short stature, microcephaly, and endocrine dysfunction | AAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGATTAGGTTTTTAGAATTTTTATATTATGTGGTTGTCTGTTTGTTCAAGTAATGAAGTTCTTGTGCAGTTGCAAAGTACTTAACAAATGGATGATGGTGATCTTAGA... | AAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGATTAGGTTTTTAGAATTTTTATATTATGTGGTTGTCTGTTTGTTCAAGTAATGAAGTTCTTGTGCAGTTGCAAAGTACTTAACAAATGGATGATGGTGATCTTAGA... |
Task1_train_9283 | Here is a genetic alteration in XRCC4 (X-ray repair cross complementing 4) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Short stature, microcephaly, and endocrine dysfunction | TATTGGTACCTTGCAAGACTCCCTTTTTCATTAACTGTCATGGGTCTTCCAGACACTTGATAGCATAGAGACCAAAGGTATGAAAATGTGTGTTCCATTTTAGGGATTCTTTAATCATGATTTCCTTATATTCTGTAATATTTTATACTAATGTTGTTTTTCAAAATTATGGATGGAAATAATTTATCCAATGTTTCATGTCTCTGCTTCACCTCAAAATAAAACATGCAGAGAGATATGAGTATTAATCCCAGCTTCACTAGTTACTTACTTCATCACCCTAGACCATTACTTGATCTCTGTGAGCCTCAGTTTTCTCT... | TATTGGTACCTTGCAAGACTCCCTTTTTCATTAACTGTCATGGGTCTTCCAGACACTTGATAGCATAGAGACCAAAGGTATGAAAATGTGTGTTCCATTTTAGGGATTCTTTAATCATGATTTCCTTATATTCTGTAATATTTTATACTAATGTTGTTTTTCAAAATTATGGATGGAAATAATTTATCCAATGTTTCATGTCTCTGCTTCACCTCAAAATAAAACATGCAGAGAGATATGAGTATTAATCCCAGCTTCACTAGTTACTTACTTCATCACCCTAGACCATTACTTGATCTCTGTGAGCCTCAGTTTTCTCT... |
Task1_train_9284 | A variant affecting Chromosome 5, within the gene XRCC4 (X-ray repair cross complementing 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Short stature, microcephaly, and endocrine dysfunction | ACAATAATATTCTGTAGGTGACTTTTTTTTTCCTTTTTTTGTTTTTGTTGTTGTTGTTGTTTTCGAGACTGAGTCTCGCTGTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTGTGTCTCGCGGTTCAAGCGATCCTTGTGCCTCAGCCTCCTGAGTAGCTGGGCTTATAAGCGTGCACCACCATGTCTGGCTCATTTTTGTATTTTTAGTAAAGACTAAACACTGTCTTTACAACACTGTGTTGGCCAGGCAGGTTTCGAACTCCTGACCTCAGATGAACTCCACCTGCCTTGGCCTCCCAA... | ACAATAATATTCTGTAGGTGACTTTTTTTTTCCTTTTTTTGTTTTTGTTGTTGTTGTTGTTTTCGAGACTGAGTCTCGCTGTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTGTGTCTCGCGGTTCAAGCGATCCTTGTGCCTCAGCCTCCTGAGTAGCTGGGCTTATAAGCGTGCACCACCATGTCTGGCTCATTTTTGTATTTTTAGTAAAGACTAAACACTGTCTTTACAACACTGTGTTGGCCAGGCAGGTTTCGAACTCCTGACCTCAGATGAACTCCACCTGCCTTGGCCTCCCAA... |
Task1_train_9285 | This alteration in CCNH, RASA1 (cyclin H| RAS p21 protein activator 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Basal cell carcinoma, somatic | GTATACTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCT... | GTATACTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCT... |
Task1_train_9286 | This variant affects gene CCNH, RASA1 (cyclin H| RAS p21 protein activator 1) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Basal cell carcinoma, somatic | CTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTA... | CTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTA... |
Task1_train_9287 | A variant was discovered on Chromosome 5, affecting CCNH, RASA1 (cyclin H| RAS p21 protein activator 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Basal cell carcinoma, somatic | GTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTATAG... | GTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTATAG... |
Task1_train_9288 | This genomic variant is located on Chromosome 5, within the CCNH, RASA1 (cyclin H| RAS p21 protein activator 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Capillary malformation-arteriovenous malformation 1 | GATTGGCAGTTATTTTGCCATTTTAAAGATGGTTTTCTGCCTTCCAACATTTTCGTTGTCATTCAAATTGTTTCTGTTTTAGAGGTAATGTATCTTTGTCTTTTCTCTTAGAGGTAATGTATCTCACACAACTTTCTCTGGATGCTTTGAGATTTTTCCTTATATTTTTAGTGGGAAAACTAAAATGTACCAACTATAAATTAAAAAAAAAATTATCCTTAGGTTTGTAGTGCTTCATCAATCTGAGACCTGATGTTCTTTGTCAGTTTTAGAAAACTCTTGGTTAGTATCTGTTTAAATGTTTAGTATCTAATTTAAAC... | GATTGGCAGTTATTTTGCCATTTTAAAGATGGTTTTCTGCCTTCCAACATTTTCGTTGTCATTCAAATTGTTTCTGTTTTAGAGGTAATGTATCTTTGTCTTTTCTCTTAGAGGTAATGTATCTCACACAACTTTCTCTGGATGCTTTGAGATTTTTCCTTATATTTTTAGTGGGAAAACTAAAATGTACCAACTATAAATTAAAAAAAAAATTATCCTTAGGTTTGTAGTGCTTCATCAATCTGAGACCTGATGTTCTTTGTCAGTTTTAGAAAACTCTTGGTTAGTATCTGTTTAAATGTTTAGTATCTAATTTAAAC... |
Task1_train_9289 | A variant affecting Chromosome 5, within the gene MEF2C (myocyte enhancer factor 2C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 20 | CCCCCAGGTAGCTGGGACCACACATGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTTTGCAGAGACGGAGTTTTGCCATGTTACCCAGGCTGCTCTCAAACTCCTGAGCTCAGGCAATCTGCCCACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATT... | CCCCCAGGTAGCTGGGACCACACATGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTTTGCAGAGACGGAGTTTTGCCATGTTACCCAGGCTGCTCTCAAACTCCTGAGCTCAGGCAATCTGCCCACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATT... |
Task1_train_9290 | A genomic change on Chromosome 5 affects MEF2C (myocyte enhancer factor 2C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... |
Task1_train_9291 | This variant impacts the gene MEF2C (myocyte enhancer factor 2C) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intellectual disability, autosomal dominant 20 | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... |
Task1_train_9292 | This variant lies on Chromosome 5 and affects the gene MEF2C (myocyte enhancer factor 2C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 20 | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... | CACCTAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAG... |
Task1_train_9293 | A genomic change on Chromosome 5 affects MEF2C (myocyte enhancer factor 2C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability, autosomal dominant 20 | TAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAGTAAA... | TAGGCCTCCCAAAGTGTTGGCATTATAGGTGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAGTAAA... |
Task1_train_9294 | This mutation occurs in MEF2C (myocyte enhancer factor 2C) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 20 | TGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAGTAAATAGTTGTTTTGTTTTCTGAATTTATTTTA... | TGTGAGCCACCACACCTGGCCAATATATGAAGTTTTAAGTTGCCTTCAAGTCATATAATATATTCCTAAGAAAAACCCTCAGAAGATGAATGTTCTAGGTTTTAAACTCCTTTAAGAAAGCAAATTTTAGAAGTCAACATATTTTCCAATTGGCTCATTATGGATCTACAGCATTTCACATGACATTAAGGACTAGCAGTTCCAGTGTAATGATAAATTCCAACTCAAATTCTTTTGTTACCCTGACTTTTGTTATAATGGTTTTAGTAATGAGATGGAGTTTTTAGTAAATAGTTGTTTTGTTTTCTGAATTTATTTTA... |
Task1_train_9295 | This variant lies on Chromosome 5 and affects the gene MEF2C (myocyte enhancer factor 2C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 20 | TTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACAT... | TTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACAT... |
Task1_train_9296 | A mutation in MEF2C (myocyte enhancer factor 2C), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability, autosomal dominant 20 | AGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACATCACATGTATTCCATATTATATACAACTATTATGTA... | AGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACATCACATGTATTCCATATTATATACAACTATTATGTA... |
Task1_train_9297 | This variant impacts the gene ADGRV1 (adhesion G protein-coupled receptor V1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Usher syndrome type 2C | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... |
Task1_train_9298 | A variant has been detected on Chromosome 5 in ADGRV1 (adhesion G protein-coupled receptor V1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Febrile seizures, familial, 4 | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... |
Task1_train_9299 | A variant has been detected on Chromosome 5 in ADGRV1 (adhesion G protein-coupled receptor V1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Febrile seizures, familial, 4 | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... |
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