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_14100 | This mutation is located in gene SFTPA1 (surfactant protein A1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Interstitial lung disease 1 | CCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTT... | CCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTT... |
Task1_train_14101 | The gene SFTPA1 (surfactant protein A1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Interstitial lung disease 1 | CCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCA... | CCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCA... |
Task1_train_14102 | This sequence change occurs on Chromosome 10, altering ANXA11 (annexin A11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TGGGATTACAGGCATGAGTCACTGCACCCGGCCGACACTATTTGTTAAAACAAGAAGTGCAGCTGGAGGCCTGCGCCTTTCCCTGTCTCCCCATCTACTGAGCCATGTGTCTCCAGCCTTTGGGGCCCAGGCCTGGACCAAGGGAGGCAGTGGGCTGACACTCACCTGGGTTGGGGGCACAGCGGGGGTGACAGTCCCAGACCCCGGGTATCCTGGGTAGCTCGGCACTGGCTGCTGCTGCCCAGGGAGTGGCACTGGAGGCTGACCAGGGTAGGTCACTGGTGGCTGCCCAGGGTAGGCCCCTGGGGGCTGCTGTCCGG... | TGGGATTACAGGCATGAGTCACTGCACCCGGCCGACACTATTTGTTAAAACAAGAAGTGCAGCTGGAGGCCTGCGCCTTTCCCTGTCTCCCCATCTACTGAGCCATGTGTCTCCAGCCTTTGGGGCCCAGGCCTGGACCAAGGGAGGCAGTGGGCTGACACTCACCTGGGTTGGGGGCACAGCGGGGGTGACAGTCCCAGACCCCGGGTATCCTGGGTAGCTCGGCACTGGCTGCTGCTGCCCAGGGAGTGGCACTGGAGGCTGACCAGGGTAGGTCACTGGTGGCTGCCCAGGGTAGGCCCCTGGGGGCTGCTGTCCGG... |
Task1_train_14103 | This gene mutation involves MAT1A, LOC126860980 (methionine adenosyltransferase 1A| CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:82032694-82033893) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GGGGTTTTGCAGAGAATAACTAAGCATAGGGTAGTTGCTCCTTGAGTTTTTATTCATTGTTTTAGCAGGAACTATTAACAAATAAAGGCTTTAGTTTCATACAAACAAACTGACAAAAAAGATCTTATTTCTCTAGAGGGTAGGGAAAGTATAAAATTCTGAATTTTCATGTCGAGTGTGAGCCAAGTTAGAGGAACTTGGCCACCTGCAAACCACTCCCTCCCTCCATGGGAAGGAATCTGAGGCTTCCTAGGTGACCAGGAGCCGGGCTTCTTTTGTTGCCTTAATTTCCTTTCACCTGAGAGAAAATGAAAGCCAGG... | GGGGTTTTGCAGAGAATAACTAAGCATAGGGTAGTTGCTCCTTGAGTTTTTATTCATTGTTTTAGCAGGAACTATTAACAAATAAAGGCTTTAGTTTCATACAAACAAACTGACAAAAAAGATCTTATTTCTCTAGAGGGTAGGGAAAGTATAAAATTCTGAATTTTCATGTCGAGTGTGAGCCAAGTTAGAGGAACTTGGCCACCTGCAAACCACTCCCTCCCTCCATGGGAAGGAATCTGAGGCTTCCTAGGTGACCAGGAGCCGGGCTTCTTTTGTTGCCTTAATTTCCTTTCACCTGAGAGAAAATGAAAGCCAGG... |
Task1_train_14104 | A genetic alteration is present in MAT1A (methionine adenosyltransferase 1A) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hepatic methionine adenosyltransferase deficiency | ACCAGAAGGCAAGCCCCGCCTATTTAACATGAGGCCATAGGACCAGCCTCCCTGGATCCGAAAGGGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCA... | ACCAGAAGGCAAGCCCCGCCTATTTAACATGAGGCCATAGGACCAGCCTCCCTGGATCCGAAAGGGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCA... |
Task1_train_14105 | This sequence variant lies in MAT1A (methionine adenosyltransferase 1A) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hepatic methionine adenosyltransferase deficiency | GAAGGCAAGCCCCGCCTATTTAACATGAGGCCATAGGACCAGCCTCCCTGGATCCGAAAGGGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCAGCCT... | GAAGGCAAGCCCCGCCTATTTAACATGAGGCCATAGGACCAGCCTCCCTGGATCCGAAAGGGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCAGCCT... |
Task1_train_14106 | This alteration in MAT1A (methionine adenosyltransferase 1A) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | GGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCAGCCTACCCTGATGGGCCAGGTAAGCCAACTCACCCTCAGTCATCTTCTGGGACACATGAAGCAA... | GGCCACTCACTCCCTCCAAATGCACTCAGCCTGCAGGGGATACAAGGGACCAGGGAAAGAGAAAGACTTGAGGGCCTCTGTCTAAGGGGCTGGCCATCTGTGCTAGGACAAGTTGCTGCTTCTGCTCCAGGAAGCCCAGATAGGACTGGACTGGACTTAGACCACTTACCCCAGAAGTCCAAAAACCCAATCTCTGCATGTCTCTGAGTGGTCAGGGGGCTGGGATTCTAAAGCTGCTGGTCAGTCCCTAACTCCAGCCTACCCTGATGGGCCAGGTAAGCCAACTCACCCTCAGTCATCTTCTGGGACACATGAAGCAA... |
Task1_train_14107 | Chromosome 10 houses a mutation in gene MAT1A (methionine adenosyltransferase 1A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hepatic methionine adenosyltransferase deficiency | GCTTTGTCATTGTTTGAGCCTGTTACTGGCATGAGACAACGGTGGGGGAGGGGGTATGTCACAGGCTCCTGAGTCAAAGCTCCTAGTTATACATCTAGGTCTAAACACGTGGCTGTGGGACCCTGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCT... | GCTTTGTCATTGTTTGAGCCTGTTACTGGCATGAGACAACGGTGGGGGAGGGGGTATGTCACAGGCTCCTGAGTCAAAGCTCCTAGTTATACATCTAGGTCTAAACACGTGGCTGTGGGACCCTGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCT... |
Task1_train_14108 | Gene MAT1A (methionine adenosyltransferase 1A) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hepatic methionine adenosyltransferase deficiency | CTGTTACTGGCATGAGACAACGGTGGGGGAGGGGGTATGTCACAGGCTCCTGAGTCAAAGCTCCTAGTTATACATCTAGGTCTAAACACGTGGCTGTGGGACCCTGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGC... | CTGTTACTGGCATGAGACAACGGTGGGGGAGGGGGTATGTCACAGGCTCCTGAGTCAAAGCTCCTAGTTATACATCTAGGTCTAAACACGTGGCTGTGGGACCCTGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGC... |
Task1_train_14109 | A mutation in MAT1A (methionine adenosyltransferase 1A), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hepatic methionine adenosyltransferase deficiency | TGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGG... | TGTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGG... |
Task1_train_14110 | This variant affects the gene MAT1A (methionine adenosyltransferase 1A) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hepatic methionine adenosyltransferase deficiency | GTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGG... | GTGGAAGTTATCCAGACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGG... |
Task1_train_14111 | A variant was discovered in gene MAT1A (methionine adenosyltransferase 1A), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; MAT1A-related disorder | GACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGG... | GACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGG... |
Task1_train_14112 | The variant affects gene MAT1A (methionine adenosyltransferase 1A), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hepatic methionine adenosyltransferase deficiency | GACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGG... | GACTCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGG... |
Task1_train_14113 | The variant affects gene MAT1A (methionine adenosyltransferase 1A), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hepatic methionine adenosyltransferase deficiency | TCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGGTCC... | TCTCTGTGCTTTGCTTTCCCCCATCTATAAATGGGATATAAAAGGTACTACCTCATCATGTTGCAGTGAAGAAAAAACGAGATCAGTTATTAGCTGGGTCCCTCGCACATTACAGGTGCTTAGGAGACATCAGTCCTGCTCTAACCCCTGCCACATGCCTGGCCTGGGTGGGGCTTTCTGGAGACCCTGGCTCAGGGCACTGGCTGCCTGTGAAAGGGGGGTCCAGGAGCCCAGGCCCACAAGGAGCCCTGAGGCCTGTTGAGATGTGCTGACCTCACCTGGCACAGGCAAGGGGAGGGAGGGGGAGCTGGTCAGGGTCC... |
Task1_train_14114 | The variant affects gene CDHR1 (cadherin related family member 1), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa | GAGCTGAGATCCGCCATTGCACTCCAGCCTGGGTGACCGAGTGAGACTCCAGCTCAAAAAAAAAAAGAGTTTGAACCTTCTTTGGAGCCAACCCAAACTGTATGTGAATCCAAGCTCTGCACCTCAGAGAGAATAAGTCACTTGCTTGGTCGTACACAGCCAATGAGGAAATCTCCCTCCTCTGCAAAGCAGAGAAAATCACATTGGGAGAGCAGTGCAGGTCAAATAAGATAATATGGGCAAATATACATAAGCACACATACAGCACATGGCATGTAGGCTACTCCTTCCCCTTCCCTCTCCAGTGCATGGCTGTTGAC... | GAGCTGAGATCCGCCATTGCACTCCAGCCTGGGTGACCGAGTGAGACTCCAGCTCAAAAAAAAAAAGAGTTTGAACCTTCTTTGGAGCCAACCCAAACTGTATGTGAATCCAAGCTCTGCACCTCAGAGAGAATAAGTCACTTGCTTGGTCGTACACAGCCAATGAGGAAATCTCCCTCCTCTGCAAAGCAGAGAAAATCACATTGGGAGAGCAGTGCAGGTCAAATAAGATAATATGGGCAAATATACATAAGCACACATACAGCACATGGCATGTAGGCTACTCCTTCCCCTTCCCTCTCCAGTGCATGGCTGTTGAC... |
Task1_train_14115 | Gene CDHR1 (cadherin related family member 1) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinal dystrophy | ACTCTTTCCCCCAGGTTGGAGTGCAGTGGCACAATATTGGCTCACTGAAAACTCTGCCTCCCAGGTTTAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACACATCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGCCACTGCGCCTGACCTATTTTTTTGTTTGTTTTTATTTTTTTAAAAAAAGAATTTAATGCCCCCA... | ACTCTTTCCCCCAGGTTGGAGTGCAGTGGCACAATATTGGCTCACTGAAAACTCTGCCTCCCAGGTTTAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACACATCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGCCACTGCGCCTGACCTATTTTTTTGTTTGTTTTTATTTTTTTAAAAAAAGAATTTAATGCCCCCA... |
Task1_train_14116 | Gene CDHR1 (cadherin related family member 1) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cone-rod dystrophy 15 | ACTCTTTCCCCCAGGTTGGAGTGCAGTGGCACAATATTGGCTCACTGAAAACTCTGCCTCCCAGGTTTAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACACATCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGCCACTGCGCCTGACCTATTTTTTTGTTTGTTTTTATTTTTTTAAAAAAAGAATTTAATGCCCCCA... | ACTCTTTCCCCCAGGTTGGAGTGCAGTGGCACAATATTGGCTCACTGAAAACTCTGCCTCCCAGGTTTAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACACATCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGCCACTGCGCCTGACCTATTTTTTTGTTTGTTTTTATTTTTTTAAAAAAAGAATTTAATGCCCCCA... |
Task1_train_14117 | The gene GRID1 (glutamate ionotropic receptor delta type subunit 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GRID1-associated neurodevelopmental disorder | TCAAAAGTAATAAGCAATCCATTTAGAAAAGATAAAAACAGATATTTTATTGAAGGGGATATATACATAGCAAATAAGCACAAAAAAAGGTGTGCAACATCATTAGTCATTCAGGAATTGCAAAATAAAACCACAATGAAGTATGACTCCACACCTATCAGAATGGTAAAATGAAAAATAATGGCAACACCAAATGTCAGGAAAGATGCAGAGAAACTGGATTATTCTTACATCACTGGCAGAAATATAAAATGATACAGACACGCTGGAAAGCAGTTTGATACTTTCTTACAATACCCAACATGAACTTGCCATATGAT... | TCAAAAGTAATAAGCAATCCATTTAGAAAAGATAAAAACAGATATTTTATTGAAGGGGATATATACATAGCAAATAAGCACAAAAAAAGGTGTGCAACATCATTAGTCATTCAGGAATTGCAAAATAAAACCACAATGAAGTATGACTCCACACCTATCAGAATGGTAAAATGAAAAATAATGGCAACACCAAATGTCAGGAAAGATGCAGAGAAACTGGATTATTCTTACATCACTGGCAGAAATATAAAATGATACAGACACGCTGGAAAGCAGTTTGATACTTTCTTACAATACCCAACATGAACTTGCCATATGAT... |
Task1_train_14118 | This gene mutation involves LDB3 (LIM domain binding 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Myofibrillar myopathy 4 | CCAGGCTGGAGTGAATTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCCCCAAGTAGCTGGGACTACAGGCACCCACCACCACGCCTGGCTGATTTTGTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGTCACTGTGCCCGGCCTAATTTTGTTTCTTAGTAGAGACAAGGTTTCTCCACGTTGGTCAGGCTGGTCTCGAACT... | CCAGGCTGGAGTGAATTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCCCCAAGTAGCTGGGACTACAGGCACCCACCACCACGCCTGGCTGATTTTGTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGTCACTGTGCCCGGCCTAATTTTGTTTCTTAGTAGAGACAAGGTTTCTCCACGTTGGTCAGGCTGGTCTCGAACT... |
Task1_train_14119 | This variant affects the gene LDB3 (LIM domain binding 3) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dilated cardiomyopathy 1C | GAGGTGACCCACTCCCACCTCTCCCCGCCCAGGTACCCCCACCCCCACTCTGCGTCTTATGCAGGCCTTGGGCAGTCAAGGCCTGGCGGAGCCCCACCCTGCACAGCTGCAAATATTTATAGCCATGTCCCTTTTCCAGCCCTGTCGAGGGTTCTGCTGTGCTTGCTCCCTAGCTCTGTGAACACCCTGCTGAGAATTCAAATCTGGGCCATCAAGAAGTTCAGGAACAAGTCTCCCAAAAAAACTGAAATTGTACTGCTCTAATGTTAAAGTCACCTTTTGCATTTCTCTGGCTAGGAGTGAGGGGAACTGGGAAGAAT... | GAGGTGACCCACTCCCACCTCTCCCCGCCCAGGTACCCCCACCCCCACTCTGCGTCTTATGCAGGCCTTGGGCAGTCAAGGCCTGGCGGAGCCCCACCCTGCACAGCTGCAAATATTTATAGCCATGTCCCTTTTCCAGCCCTGTCGAGGGTTCTGCTGTGCTTGCTCCCTAGCTCTGTGAACACCCTGCTGAGAATTCAAATCTGGGCCATCAAGAAGTTCAGGAACAAGTCTCCCAAAAAAACTGAAATTGTACTGCTCTAATGTTAAAGTCACCTTTTGCATTTCTCTGGCTAGGAGTGAGGGGAACTGGGAAGAAT... |
Task1_train_14120 | A variant affecting Chromosome 10, within the gene LDB3 (LIM domain binding 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dilated cardiomyopathy 1C | ACCCTGCACAGCTGCAAATATTTATAGCCATGTCCCTTTTCCAGCCCTGTCGAGGGTTCTGCTGTGCTTGCTCCCTAGCTCTGTGAACACCCTGCTGAGAATTCAAATCTGGGCCATCAAGAAGTTCAGGAACAAGTCTCCCAAAAAAACTGAAATTGTACTGCTCTAATGTTAAAGTCACCTTTTGCATTTCTCTGGCTAGGAGTGAGGGGAACTGGGAAGAATGAATTCCTGACACACCTTTCTTTGGGTTTTTTTTGGCTTTTGCAGTGCCTGCATCTACCTACAGCCCGTCCCCAGGGGCCAATTACAGTCCCACT... | ACCCTGCACAGCTGCAAATATTTATAGCCATGTCCCTTTTCCAGCCCTGTCGAGGGTTCTGCTGTGCTTGCTCCCTAGCTCTGTGAACACCCTGCTGAGAATTCAAATCTGGGCCATCAAGAAGTTCAGGAACAAGTCTCCCAAAAAAACTGAAATTGTACTGCTCTAATGTTAAAGTCACCTTTTGCATTTCTCTGGCTAGGAGTGAGGGGAACTGGGAAGAATGAATTCCTGACACACCTTTCTTTGGGTTTTTTTTGGCTTTTGCAGTGCCTGCATCTACCTACAGCCCGTCCCCAGGGGCCAATTACAGTCCCACT... |
Task1_train_14121 | This gene mutation involves LDB3 (LIM domain binding 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | CGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATTGCTTGGGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAACTACAAAAAAAATTAGCTGAGTATGGTGGTGGGCGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGAATTTCATCTCTTTTGTTTTTTTGTATATTTCTCTGCATA... | CGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATTGCTTGGGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAACTACAAAAAAAATTAGCTGAGTATGGTGGTGGGCGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGAATTTCATCTCTTTTGTTTTTTTGTATATTTCTCTGCATA... |
Task1_train_14122 | A variant affecting Chromosome 10, within the gene BMPR1A (bone morphogenetic protein receptor type 1A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary cancer-predisposing syndrome | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... |
Task1_train_14123 | Gene BMPR1A (bone morphogenetic protein receptor type 1A), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Juvenile polyposis syndrome | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... |
Task1_train_14124 | The gene BMPR1A (bone morphogenetic protein receptor type 1A) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... | AATAACTTTGGAAAGCTAATTAAAGTGAAAATTCTTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATG... |
Task1_train_14125 | Here’s a variant in BMPR1A (bone morphogenetic protein receptor type 1A) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAG... | TTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAG... |
Task1_train_14126 | This sequence variant lies in BMPR1A (bone morphogenetic protein receptor type 1A) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Juvenile polyposis syndrome | CTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACT... | CTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACT... |
Task1_train_14127 | Gene BMPR1A (bone morphogenetic protein receptor type 1A) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | CTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACT... | CTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACT... |
Task1_train_14128 | Located on Chromosome 10, this mutation impacts BMPR1A (bone morphogenetic protein receptor type 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Juvenile polyposis syndrome | GTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTAACATATGTGCCTTTTCCCTTTCATAAGCTCAACAGCCCAACATGCAGTTTCATTGTACGTTCTGTG... | GTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTAACATATGTGCCTTTTCCCTTTCATAAGCTCAACAGCCCAACATGCAGTTTCATTGTACGTTCTGTG... |
Task1_train_14129 | This variant affects gene GLUD1 (glutamate dehydrogenase 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | GCCACACACCTACTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAG... | GCCACACACCTACTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAG... |
Task1_train_14130 | This mutation occurs in GLUD1 (glutamate dehydrogenase 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hyperinsulinemia | GCCACACACCTACTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAG... | GCCACACACCTACTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAG... |
Task1_train_14131 | Here is a variant affecting GLUD1 (glutamate dehydrogenase 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | CTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAA... | CTTCTTAAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAA... |
Task1_train_14132 | This mutation is located in gene GLUD1 (glutamate dehydrogenase 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATT... | AAATGTGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATT... |
Task1_train_14133 | The gene GLUD1 (glutamate dehydrogenase 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | TGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATTTCTGT... | TGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATTTCTGT... |
Task1_train_14134 | Consider this mutation in GLUD1 (glutamate dehydrogenase 1) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | TGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATTTCTGT... | TGTTAAAGTTACAGTGTGTCCCAGACTCATCCAGAAAAAATAAGCAAGCAACTGACTGCTCTTGACTGTTCCTCCCCAGCACTAGCACTGATTGTGTTGGGAAAAGCCACAGAGCAAGGCTGCACAGCCAGATAAAGGAGGCTTTTTATTTAAAGGCAAAATACCAAAATGGCTCTCTGGTGTAGGTGATTTCTACTTTCACACTCAGCTTGTACATGATCCGCTAACCTTAATTTCTTTCTCCTTAACGGGCTGACTTGGATTGACTTGTTGAGAATGGTATCCATTATTAATGAGTCAGGAGAGAAAGGGATTTCTGT... |
Task1_train_14135 | A sequence alteration has been identified in GLUD1 (glutamate dehydrogenase 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | CAGATAAAAGGACCAGAACAAAGACATCACTCTAGGAAATAGGAAGTTTACTGAGGGGAACGGTTAGTACCTAGAATGGGTAAAGCATTTTTTCTTTCTTTACAACAAAATCTTTAACTTTTTCCCATGTTGCAATATAGTCTCAGAACTGTTTTCCATCACTGAATATTTCATAAGGAGATATATTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGGGTTTGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTGTACTAAAAATACAAAA... | CAGATAAAAGGACCAGAACAAAGACATCACTCTAGGAAATAGGAAGTTTACTGAGGGGAACGGTTAGTACCTAGAATGGGTAAAGCATTTTTTCTTTCTTTACAACAAAATCTTTAACTTTTTCCCATGTTGCAATATAGTCTCAGAACTGTTTTCCATCACTGAATATTTCATAAGGAGATATATTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGGGTTTGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTGTACTAAAAATACAAAA... |
Task1_train_14136 | Mutation context: Chromosome 10, Gene GLUD1 (glutamate dehydrogenase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | GACTCCCTCTCAAAAAAAGAAAAAAAAAATGTAGATTATATTCTGTGAATATTACATCACAGAATAAAACTCTGGATATAATATATGGGAGAGTTAATATCCAGAAAGACATTGTGCATTTTTGGTCTAAGTTTCATGAGACAAAATATTATTTTCTTTTCTGAGACTCAATTCTTTCCCAAAGGGATCAGTTCTCTTAAGTGGACCTTTTTACAGCCTTTCAGCTGGCTCAAAAGATGAGTTTTGGCGAACAAGATTATCGATACTCACTGAGCAAGTGGTAGTTAGAATCCCTTTCATATTTGAAGGTCAAACGGCCA... | GACTCCCTCTCAAAAAAAGAAAAAAAAAATGTAGATTATATTCTGTGAATATTACATCACAGAATAAAACTCTGGATATAATATATGGGAGAGTTAATATCCAGAAAGACATTGTGCATTTTTGGTCTAAGTTTCATGAGACAAAATATTATTTTCTTTTCTGAGACTCAATTCTTTCCCAAAGGGATCAGTTCTCTTAAGTGGACCTTTTTACAGCCTTTCAGCTGGCTCAAAAGATGAGTTTTGGCGAACAAGATTATCGATACTCACTGAGCAAGTGGTAGTTAGAATCCCTTTCATATTTGAAGGTCAAACGGCCA... |
Task1_train_14137 | A mutation on Chromosome 10 affecting GLUD1 (glutamate dehydrogenase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GAGTTAATATCCAGAAAGACATTGTGCATTTTTGGTCTAAGTTTCATGAGACAAAATATTATTTTCTTTTCTGAGACTCAATTCTTTCCCAAAGGGATCAGTTCTCTTAAGTGGACCTTTTTACAGCCTTTCAGCTGGCTCAAAAGATGAGTTTTGGCGAACAAGATTATCGATACTCACTGAGCAAGTGGTAGTTAGAATCCCTTTCATATTTGAAGGTCAAACGGCCATAGCTGACATGATTTAGATTCTTCAGCCACTCAAAGTAAGATACTGTCACTCCTCCAGCATTCAAGTAGAGATCCTATGCACAAAAATAA... | GAGTTAATATCCAGAAAGACATTGTGCATTTTTGGTCTAAGTTTCATGAGACAAAATATTATTTTCTTTTCTGAGACTCAATTCTTTCCCAAAGGGATCAGTTCTCTTAAGTGGACCTTTTTACAGCCTTTCAGCTGGCTCAAAAGATGAGTTTTGGCGAACAAGATTATCGATACTCACTGAGCAAGTGGTAGTTAGAATCCCTTTCATATTTGAAGGTCAAACGGCCATAGCTGACATGATTTAGATTCTTCAGCCACTCAAAGTAAGATACTGTCACTCCTCCAGCATTCAAGTAGAGATCCTATGCACAAAAATAA... |
Task1_train_14138 | With a mutation on Chromosome 10 in gene GLUD1 (glutamate dehydrogenase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyperinsulinism-hyperammonemia syndrome | GTTGGATTTGGTCAACTGCTTCTCACTGGCAGCTGGGATCAGTATGTCACAGTCGGCCTCCAAGATGCTTCCTTCATAGGGCTTTGCCTTGGGGAAGCCCAGAATGGACCCATGTTGCTGCCATTGATTGAAAATCACAATTAATAGCTGCACCAGAGTTTTAAATATTTATATTTAGTGTCTATGCTATAAAAATGTATTAATACCAATTTGAAGTCTTCCAGTTCCTTTGGGTCAATACCATCTGGATTCCATATACTCCCATCAGACTCACCAACAGCAATACATTTAGCACCAAAACGATGTAAATATCTCATAGA... | GTTGGATTTGGTCAACTGCTTCTCACTGGCAGCTGGGATCAGTATGTCACAGTCGGCCTCCAAGATGCTTCCTTCATAGGGCTTTGCCTTGGGGAAGCCCAGAATGGACCCATGTTGCTGCCATTGATTGAAAATCACAATTAATAGCTGCACCAGAGTTTTAAATATTTATATTTAGTGTCTATGCTATAAAAATGTATTAATACCAATTTGAAGTCTTCCAGTTCCTTTGGGTCAATACCATCTGGATTCCATATACTCCCATCAGACTCACCAACAGCAATACATTTAGCACCAAAACGATGTAAATATCTCATAGA... |
Task1_train_14139 | A mutation on Chromosome 10 affecting MINPP1 (multiple inositol-polyphosphate phosphatase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thyroid cancer, nonmedullary, 2 | GCTTAAGCACTCTTCGTCTTCTTTATATTTGGCTTTTTCCTAGCCAAAAACATGGAGGCATTGCTTACTTTTACTTTATCATTGTTATCTTGGCATAACATCAAAATAATTAGGAGCTGATATACCTAAGTGTATAAAACAGGATAAAATTAATTGATGAGGAATTAGATAAGGAAAATAAAATCAAACTAGGGGCAAATTTCATGTATAAAAATGTGTACTGTGCCATACATTTTGTAAGTGGAGTCTCTAAAGATTGCTTCATAAGGAAGAAGTGAATAATGACTTTGGGAACACTTGGTAACCCCTAGGACTCAAAA... | GCTTAAGCACTCTTCGTCTTCTTTATATTTGGCTTTTTCCTAGCCAAAAACATGGAGGCATTGCTTACTTTTACTTTATCATTGTTATCTTGGCATAACATCAAAATAATTAGGAGCTGATATACCTAAGTGTATAAAACAGGATAAAATTAATTGATGAGGAATTAGATAAGGAAAATAAAATCAAACTAGGGGCAAATTTCATGTATAAAAATGTGTACTGTGCCATACATTTTGTAAGTGGAGTCTCTAAAGATTGCTTCATAAGGAAGAAGTGAATAATGACTTTGGGAACACTTGGTAACCCCTAGGACTCAAAA... |
Task1_train_14140 | This alteration occurs within gene MINPP1 (multiple inositol-polyphosphate phosphatase 1) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Thyroid cancer, nonmedullary, 2 | TTACAACCACAATCTGGAGTTGATAGTATTTTCCCCTTATCTCAAAGATGAGGAAATTGATACACGAACACATTAAATAATTTGCCCATTTTCATACAGCTAGCTGTGGACCCAGGAAATCTGATTCAGAGCTTGCTTTCTTAGCCATTATGCTATACTGCCTCCATTTGTCCAATAACATACCTAATAAGAATAAAAACATGTAACATTTTTGTACCACAGAGATGAGCAAGCATTAATAGTTTCTTGATCACTTTTAAGGCCAGAATTGAAGTGAGGATTATTGTTTAGCTTCAAAGCCCAAGTGAAAAATTAGAAGT... | TTACAACCACAATCTGGAGTTGATAGTATTTTCCCCTTATCTCAAAGATGAGGAAATTGATACACGAACACATTAAATAATTTGCCCATTTTCATACAGCTAGCTGTGGACCCAGGAAATCTGATTCAGAGCTTGCTTTCTTAGCCATTATGCTATACTGCCTCCATTTGTCCAATAACATACCTAATAAGAATAAAAACATGTAACATTTTTGTACCACAGAGATGAGCAAGCATTAATAGTTTCTTGATCACTTTTAAGGCCAGAATTGAAGTGAGGATTATTGTTTAGCTTCAAAGCCCAAGTGAAAAATTAGAAGT... |
Task1_train_14141 | A genetic alteration is present in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spondyloepimetaphyseal dysplasia, PAPSS2 type | TTATCAGCAGCTATTAATTGGGCTTTCCTAATTTGACACTGAAAGGCCGGTAGGGTCCCCTAAGTCTTGAAGCCATTTTCCTGGTCCCGAATCCAGCAGATTCCAGCCTATCTGGTTTGGGGGGTGTCTACAGTGAATCATCTGTATTCACATTTATAGAGAACTTTGCCATTTGCATGTTCATATCTGTCATCTTATGTAAACTGCCAAACAGTTCTAGTTGTAGCCCTCTTTAGTTTCTATTTTCCCGAAGTTTCTATTTCCCAAAGCAAAAAGAGGTGAGTTTTCATTTCTTTTTTTTCTTTTTTTTTTTTTTTTTT... | TTATCAGCAGCTATTAATTGGGCTTTCCTAATTTGACACTGAAAGGCCGGTAGGGTCCCCTAAGTCTTGAAGCCATTTTCCTGGTCCCGAATCCAGCAGATTCCAGCCTATCTGGTTTGGGGGGTGTCTACAGTGAATCATCTGTATTCACATTTATAGAGAACTTTGCCATTTGCATGTTCATATCTGTCATCTTATGTAAACTGCCAAACAGTTCTAGTTGTAGCCCTCTTTAGTTTCTATTTTCCCGAAGTTTCTATTTCCCAAAGCAAAAAGAGGTGAGTTTTCATTTCTTTTTTTTCTTTTTTTTTTTTTTTTTT... |
Task1_train_14142 | Gene PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Spondyloepimetaphyseal dysplasia, PAPSS2 type | CTGTTAAATAATTTTGGCAGGTTGTGTTTCTTTCCCTTCTTATGTTCCTCCTCATATGGAAATTACAAAGTGTGTTCCTGATCATTGTGCTTTGAAACCATGGTGGAAGCCACATGGTAACTCTTTTCTCATATAAAGACTCTAGAGAATCTTTACACCTAAGAGTGTGACATATGGCAGCTCTAAATACATCTGCTCCCTAGCTCAGGCCGGCTTCCTGTCTTTATGTTTTGAGAGTCATTTTGGAAACATCTAGAAGCCAAAGGACAGCCTGCGGGCTCTGTAAGACGGTTGTTCAGTGGCATCCACGAGGGAGGTGG... | CTGTTAAATAATTTTGGCAGGTTGTGTTTCTTTCCCTTCTTATGTTCCTCCTCATATGGAAATTACAAAGTGTGTTCCTGATCATTGTGCTTTGAAACCATGGTGGAAGCCACATGGTAACTCTTTTCTCATATAAAGACTCTAGAGAATCTTTACACCTAAGAGTGTGACATATGGCAGCTCTAAATACATCTGCTCCCTAGCTCAGGCCGGCTTCCTGTCTTTATGTTTTGAGAGTCATTTTGGAAACATCTAGAAGCCAAAGGACAGCCTGCGGGCTCTGTAAGACGGTTGTTCAGTGGCATCCACGAGGGAGGTGG... |
Task1_train_14143 | A mutation on Chromosome 10 affecting PTEN (phosphatase and tensin homolog) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hamartomatous polyposis | ACACACGTGACCTCCTTCGGAAAGTAGTTCCGACTGTGGCCCGTGTATCCTTCCACCTCCTTTTGAACCCTCCTAGGTCTCCTCGCCCCGCCCACTCGCTGGGCTGCAGCTTCCTACCGTTCCGTACTTTCCACTCAACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCT... | ACACACGTGACCTCCTTCGGAAAGTAGTTCCGACTGTGGCCCGTGTATCCTTCCACCTCCTTTTGAACCCTCCTAGGTCTCCTCGCCCCGCCCACTCGCTGGGCTGCAGCTTCCTACCGTTCCGTACTTTCCACTCAACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCT... |
Task1_train_14144 | This variant impacts the gene PTEN (phosphatase and tensin homolog) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; PTEN hamartoma tumor syndrome | AACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCG... | AACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCG... |
Task1_train_14145 | The variant affects gene PTEN (phosphatase and tensin homolog), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cowden syndrome 1 | ACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGG... | ACCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGG... |
Task1_train_14146 | This variant lies on Chromosome 10 and affects the gene PTEN (phosphatase and tensin homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | CCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGC... | CCCGGTAACCCCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGC... |
Task1_train_14147 | Consider a variant on Chromosome 10 in gene PTEN (phosphatase and tensin homolog). Determine its clinical classification and disease relevance. | Pathogenic; PTEN hamartoma tumor syndrome | AACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCAT... | AACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCAT... |
Task1_train_14148 | This alteration in PTEN (phosphatase and tensin homolog) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; PTEN hamartoma tumor syndrome | GGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCG... | GGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCG... |
Task1_train_14149 | This is a variant in PTEN (phosphatase and tensin homolog), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; PTEN hamartoma tumor syndrome | GGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGG... | GGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGG... |
Task1_train_14150 | A mutation found in PTEN (phosphatase and tensin homolog) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neoplasm | GGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGG... | GGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGG... |
Task1_train_14151 | This alteration in PTEN (phosphatase and tensin homolog) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cowden syndrome 1 | GCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAG... | GCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAG... |
Task1_train_14152 | This variant lies on Chromosome 10 and affects the gene PTEN (phosphatase and tensin homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | GTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGC... | GTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGC... |
Task1_train_14153 | This variant affects the gene PTEN (phosphatase and tensin homolog) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; PTEN hamartoma tumor syndrome | TTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCC... | TTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCC... |
Task1_train_14154 | A variant was discovered in gene PTEN (phosphatase and tensin homolog), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; PTEN hamartoma tumor syndrome | GATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGT... | GATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGT... |
Task1_train_14155 | This gene mutation involves PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCC... | AGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCC... |
Task1_train_14156 | Given this context: Chromosome 10, gene PTEN (phosphatase and tensin homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PTEN hamartoma tumor syndrome | AAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTG... | AAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTG... |
Task1_train_14157 | This gene mutation involves PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cowden syndrome | AAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTG... | AAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTG... |
Task1_train_14158 | The following genetic variant occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; PTEN hamartoma tumor syndrome | TTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCAC... | TTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCAC... |
Task1_train_14159 | An alteration has been detected in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Glioma susceptibility 2 | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14160 | Chromosome 10 houses a mutation in gene PTEN (phosphatase and tensin homolog). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary cancer-predisposing syndrome | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14161 | Here’s a variant in PTEN (phosphatase and tensin homolog) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PTEN hamartoma tumor syndrome | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14162 | Mutation context: Chromosome 10, Gene PTEN (phosphatase and tensin homolog). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cowden syndrome 1 | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14163 | This variant lies on Chromosome 10 and affects the gene PTEN (phosphatase and tensin homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cowden syndrome 1 | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14164 | Here is a variant affecting PTEN (phosphatase and tensin homolog) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14165 | Given this context: Chromosome 10, gene PTEN (phosphatase and tensin homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PTEN hamartoma tumor syndrome | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... | AGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATG... |
Task1_train_14166 | A genomic change on Chromosome 10 affects PTEN (phosphatase and tensin homolog). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... |
Task1_train_14167 | This alteration occurs within gene PTEN (phosphatase and tensin homolog) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; PTEN hamartoma tumor syndrome | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... |
Task1_train_14168 | A variant was discovered on Chromosome 10, affecting PTEN (phosphatase and tensin homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cowden syndrome 1 | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... | TTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACT... |
Task1_train_14169 | A variant on Chromosome 10 in gene PTEN (phosphatase and tensin homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Macrocephaly-autism syndrome | TTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGA... | TTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGA... |
Task1_train_14170 | A mutation on Chromosome 10 affecting PTEN (phosphatase and tensin homolog) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | TTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACT... | TTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACT... |
Task1_train_14171 | This gene mutation involves PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; PTEN hamartoma tumor syndrome | CTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAAT... | CTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAAT... |
Task1_train_14172 | A variant found in Chromosome 10 affects PTEN (phosphatase and tensin homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PTEN hamartoma tumor syndrome | TCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTA... | TCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTA... |
Task1_train_14173 | A variant found in Chromosome 10 affects PTEN (phosphatase and tensin homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTA... | TCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTA... |
Task1_train_14174 | This variant affects the gene PTEN (phosphatase and tensin homolog) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cowden syndrome 1 | CCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAG... | CCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAG... |
Task1_train_14175 | This mutation is located in gene PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PTEN hamartoma tumor syndrome | CCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAG... | CCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAG... |
Task1_train_14176 | This variant lies on Chromosome 10 and affects the gene PTEN (phosphatase and tensin homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | TAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAG... | TAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAG... |
Task1_train_14177 | A variant was discovered in gene PTEN (phosphatase and tensin homolog), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; PTEN hamartoma tumor syndrome | AAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGA... | AAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGA... |
Task1_train_14178 | This is a variant in PTEN (phosphatase and tensin homolog), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTAT... | TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTAT... |
Task1_train_14179 | A variant was discovered on Chromosome 10, affecting PTEN (phosphatase and tensin homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Squamous cell carcinoma of the head and neck | CAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCA... | CAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCA... |
Task1_train_14180 | This mutation occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; PTEN hamartoma tumor syndrome | TTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCAC... | TTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCAC... |
Task1_train_14181 | This variant affects the gene PTEN (phosphatase and tensin homolog) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; PTEN hamartoma tumor syndrome | TAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACA... | TAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACA... |
Task1_train_14182 | A mutation in PTEN (phosphatase and tensin homolog), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neoplasm | TAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACA... | TAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACA... |
Task1_train_14183 | Here’s a variant in PTEN (phosphatase and tensin homolog) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PTEN hamartoma tumor syndrome | ATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGG... | ATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGG... |
Task1_train_14184 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cowden syndrome 1 | TGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGA... | TGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGA... |
Task1_train_14185 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGA... | TGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGA... |
Task1_train_14186 | The gene PTEN (phosphatase and tensin homolog) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PTEN hamartoma tumor syndrome | GTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAAC... | GTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAAC... |
Task1_train_14187 | Here is a mutation in PTEN (phosphatase and tensin homolog) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cowden syndrome 1 | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... |
Task1_train_14188 | Gene PTEN (phosphatase and tensin homolog), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PTEN hamartoma tumor syndrome | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... |
Task1_train_14189 | The variant affects gene PTEN (phosphatase and tensin homolog), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... | ATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTA... |
Task1_train_14190 | The following genetic variant occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cowden syndrome 1 | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14191 | Consider this mutation in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14192 | An alteration has been detected in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; PTEN hamartoma tumor syndrome | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14193 | The gene PTEN (phosphatase and tensin homolog) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neoplasm | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14194 | The variant affects gene PTEN (phosphatase and tensin homolog), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14195 | A change on Chromosome 10 affects gene PTEN (phosphatase and tensin homolog). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; PTEN hamartoma tumor syndrome | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14196 | A genetic alteration is present in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cowden syndrome 1 | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... | TGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTAC... |
Task1_train_14197 | This is a variant in PTEN (phosphatase and tensin homolog), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; PTEN hamartoma tumor syndrome | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... |
Task1_train_14198 | This is a variant in PTEN (phosphatase and tensin homolog), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Neoplasm | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... |
Task1_train_14199 | This is a variant in PTEN (phosphatase and tensin homolog), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; PTEN hamartoma tumor syndrome | ATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTA... | ATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTA... |
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