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_19600 | Consider this mutation in TGM1 (transglutaminase 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCT... | TGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCT... |
Task1_train_19601 | This alteration occurs within gene TGM1 (transglutaminase 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | CTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCAT... | CTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCAT... |
Task1_train_19602 | The gene TGM1 (transglutaminase 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTAT... | AATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTAT... |
Task1_train_19603 | Assess the clinical impact of this variant on gene TGM1 (transglutaminase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTAT... | CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTAT... |
Task1_train_19604 | This alteration in TGM1 (transglutaminase 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lamellar ichthyosis | CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTAT... | CCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTAT... |
Task1_train_19605 | A mutation in TGM1 (transglutaminase 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACA... | GTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACA... |
Task1_train_19606 | Here is a mutation in TGM1 (transglutaminase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lamellar ichthyosis | TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTA... | TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTA... |
Task1_train_19607 | This sequence change occurs on Chromosome 14, altering TGM1 (transglutaminase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTA... | TCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTA... |
Task1_train_19608 | A change on Chromosome 14 affects gene TGM1 (transglutaminase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | GCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATAT... | GCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATAT... |
Task1_train_19609 | Gene TGM1 (transglutaminase 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGA... | AGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGA... |
Task1_train_19610 | Consider a variant on Chromosome 14 in gene TGM1 (transglutaminase 1). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAAT... | GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAAT... |
Task1_train_19611 | Here’s a variant in TGM1 (transglutaminase 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lamellar ichthyosis | GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAAT... | GGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAAT... |
Task1_train_19612 | Assess the clinical impact of this variant on gene TGM1 (transglutaminase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATT... | GGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATT... |
Task1_train_19613 | This sequence change occurs on Chromosome 14, altering TGM1 (transglutaminase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Lamellar ichthyosis | CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGC... | CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGC... |
Task1_train_19614 | A change on Chromosome 14 affects gene TGM1 (transglutaminase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGC... | CAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGC... |
Task1_train_19615 | The variant affects gene TGM1 (transglutaminase 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTA... | AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTA... |
Task1_train_19616 | This variant affects the gene TGM1 (transglutaminase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lamellar ichthyosis | AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTA... | AATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTA... |
Task1_train_19617 | Gene TGM1 (transglutaminase 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | ATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACA... | ATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACA... |
Task1_train_19618 | Consider this mutation in TGM1 (transglutaminase 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGG... | TACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGG... |
Task1_train_19619 | A sequence alteration has been identified in TGM1 (transglutaminase 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTA... | AAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTA... |
Task1_train_19620 | Given this context: Chromosome 14, gene TGM1 (transglutaminase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGG... | GTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGG... |
Task1_train_19621 | Consider a variant on Chromosome 14 in gene TGM1 (transglutaminase 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGG... | TTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGG... |
Task1_train_19622 | Located on Chromosome 14, this mutation impacts TGM1 (transglutaminase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | ATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGT... | ATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGT... |
Task1_train_19623 | A variant affecting Chromosome 14, within the gene TGM1 (transglutaminase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | CATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGC... | CATGGTTCAGGTGCTCCAGGGGCTTCATGTTCTCGTCGAAGTAGATGTCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGC... |
Task1_train_19624 | The following genetic variant occurs in TGM1 (transglutaminase 1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTC... | TAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTC... |
Task1_train_19625 | Here is a genetic alteration in TGM1 (transglutaminase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCAC... | GACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCAC... |
Task1_train_19626 | This mutation is located in gene TGM1 (transglutaminase 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive congenital ichthyosis 1 | ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTA... | ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTA... |
Task1_train_19627 | This mutation occurs in TGM1 (transglutaminase 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTA... | ATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTA... |
Task1_train_19628 | Mutation context: Chromosome 14, Gene TGM1 (transglutaminase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACA... | TGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACA... |
Task1_train_19629 | This variant affects gene TGM1 (transglutaminase 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTT... | TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTT... |
Task1_train_19630 | Gene TGM1 (transglutaminase 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lamellar ichthyosis | TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTT... | TGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTT... |
Task1_train_19631 | This variant affects the gene TGM1 (transglutaminase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTC... | AGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACACACAAAACTGGTTCCCTCCAGTTCTCTCCCTGGGCCTCACCTACTTCTGGCCAGTTCTGCAGGACTCATGTCCACAGAAGAAAATGCGGGGATGCCCCTAGCCTGACAGGACTGCTGTGGGAGGACACGGGGAGCATGACAGATGGTGGAGGAGATTGGCTGTAGCCAGGGGCCTTTGCCAGGAGAGGTGTGGCTGGCTGTGTGACCCTGGGCTGGCCACCTTTCTGCACCAGGCCTCGGTCCTC... |
Task1_train_19632 | The gene FOXG1 (forkhead box G1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Rett syndrome, congenital variant | ACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACAC... | ACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACAC... |
Task1_train_19633 | This variant impacts the gene FOXG1 (forkhead box G1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Rett syndrome, congenital variant | GCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCC... | GCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCC... |
Task1_train_19634 | This sequence change occurs on Chromosome 14, altering FOXG1 (forkhead box G1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Rett syndrome, congenital variant | GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGT... | GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGT... |
Task1_train_19635 | This variant affects gene FOXG1 (forkhead box G1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGT... | GAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGT... |
Task1_train_19636 | Here is a genetic alteration in FOXG1 (forkhead box G1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; FOXG1 disorder | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... |
Task1_train_19637 | An alteration has been detected in FOXG1 (forkhead box G1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rett syndrome, congenital variant | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... |
Task1_train_19638 | This genomic variant is located on Chromosome 14, within the FOXG1 (forkhead box G1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... | GAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAA... |
Task1_train_19639 | A mutation found in FOXG1 (forkhead box G1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Rett syndrome, congenital variant | GAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGA... | GAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGA... |
Task1_train_19640 | A variant was discovered in gene FOXG1 (forkhead box G1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Rett syndrome, congenital variant | ATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCG... | ATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCG... |
Task1_train_19641 | Consider this mutation in FOXG1 (forkhead box G1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Rett syndrome, congenital variant | GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTG... | GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTG... |
Task1_train_19642 | Gene FOXG1 (forkhead box G1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Rett syndrome | GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTG... | GCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTG... |
Task1_train_19643 | Mutation context: Chromosome 14, Gene FOXG1 (forkhead box G1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Rett syndrome, congenital variant | ATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCC... | ATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCC... |
Task1_train_19644 | Given this variant in gene FOXG1 (forkhead box G1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; FOXG1 disorder | TTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTAT... | TTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTAT... |
Task1_train_19645 | This gene mutation involves FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGC... | TGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGC... |
Task1_train_19646 | Gene FOXG1 (forkhead box G1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Rett syndrome, congenital variant | TTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTA... | TTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTA... |
Task1_train_19647 | This variant affects gene FOXG1 (forkhead box G1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Rett syndrome, congenital variant | CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCA... | CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCA... |
Task1_train_19648 | A variant found in Chromosome 14 affects FOXG1 (forkhead box G1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Rett syndrome, congenital variant | CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCA... | CCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCA... |
Task1_train_19649 | A genetic alteration is present in FOXG1 (forkhead box G1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; FOXG1 disorder | CCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAG... | CCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAG... |
Task1_train_19650 | The gene FOXG1 (forkhead box G1) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rett syndrome, congenital variant | CGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCC... | CGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCC... |
Task1_train_19651 | The following genetic variant occurs in FOXG1 (forkhead box G1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Rett syndrome | CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGAC... | CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGAC... |
Task1_train_19652 | This mutation is located in gene FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Rett syndrome | CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGAC... | CCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGAC... |
Task1_train_19653 | A variant affecting Chromosome 14, within the gene FOXG1 (forkhead box G1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Rett syndrome, congenital variant | GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGA... | GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGA... |
Task1_train_19654 | A variant was discovered on Chromosome 14, affecting FOXG1 (forkhead box G1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; FOXG1 disorder | GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGA... | GCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGA... |
Task1_train_19655 | This variant affects the gene FOXG1 (forkhead box G1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; FOXG1 disorder | GCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTA... | GCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTA... |
Task1_train_19656 | A sequence alteration has been identified in FOXG1 (forkhead box G1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; not provided | ACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGT... | ACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGT... |
Task1_train_19657 | Consider a variant on Chromosome 14 in gene FOXG1 (forkhead box G1). Determine its clinical classification and disease relevance. | Pathogenic; Inborn genetic diseases | CCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCT... | CCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCT... |
Task1_train_19658 | The variant affects gene FOXG1 (forkhead box G1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Rett syndrome, congenital variant | TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCAT... | TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCAT... |
Task1_train_19659 | Given this variant in gene FOXG1 (forkhead box G1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; FOXG1 disorder | TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCAT... | TCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCAT... |
Task1_train_19660 | This genomic variant is located on Chromosome 14, within the FOXG1 (forkhead box G1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; FOXG1 disorder | CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATC... | CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATC... |
Task1_train_19661 | A variant on Chromosome 14 in gene FOXG1 (forkhead box G1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATC... | CCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATC... |
Task1_train_19662 | An alteration has been detected in FOXG1 (forkhead box G1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCC... | GCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCC... |
Task1_train_19663 | Assess the clinical impact of this variant on gene FOXG1 (forkhead box G1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Rett syndrome, congenital variant | CCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCA... | CCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCA... |
Task1_train_19664 | Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Rett syndrome, congenital variant | CCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTT... | CCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTT... |
Task1_train_19665 | This mutation is located in gene FOXG1 (forkhead box G1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | GAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACT... | GAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACT... |
Task1_train_19666 | This is a variant in FOXG1 (forkhead box G1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Rett syndrome, congenital variant | CCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCC... | CCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCC... |
Task1_train_19667 | A variant has been detected on Chromosome 14 in FOXG1 (forkhead box G1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTC... | TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTC... |
Task1_train_19668 | Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Rett syndrome, congenital variant | TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTC... | TTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTC... |
Task1_train_19669 | Here is a variant affecting FOXG1 (forkhead box G1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; FOXG1 disorder | TGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAA... | TGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAA... |
Task1_train_19670 | A variant found in Chromosome 14 affects FOXG1 (forkhead box G1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Rett syndrome, congenital variant | CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTT... | CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTT... |
Task1_train_19671 | Located on Chromosome 14, this mutation impacts FOXG1 (forkhead box G1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Rett syndrome, congenital variant | CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTT... | CTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTT... |
Task1_train_19672 | This variant affects the gene FOXG1 (forkhead box G1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGG... | TGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGGCGGGCGGGGCGGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGG... |
Task1_train_19673 | This mutation occurs in PRKD1 (protein kinase D1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital heart defects and ectodermal dysplasia | ATTTAGAACGCAAAAGAATTGGGGCATTAAAAGCTATACGTATCAACACCCTGTTTTTTTCATAAAATATATGTTTTAGAAACAGAATATTGAGTTACTTAGTATAGAAAATATTTGTATCACCACCAAATTAACTCCCCTTTAGAAAGTATAATTTTAAAGTCCTGATAAGATAATGTATGTTATAGGGGAAAGAATTAAAGTCTTGGCTCTGTCACTTATTAGCTCTGTGATCTTGAGCAAATCACTCACTCTTTCTGAATTTTAGGTTCCTCATCTACAATGAGGAGAAGATTGGATGAAAGGAGGCATGTAAAGTA... | ATTTAGAACGCAAAAGAATTGGGGCATTAAAAGCTATACGTATCAACACCCTGTTTTTTTCATAAAATATATGTTTTAGAAACAGAATATTGAGTTACTTAGTATAGAAAATATTTGTATCACCACCAAATTAACTCCCCTTTAGAAAGTATAATTTTAAAGTCCTGATAAGATAATGTATGTTATAGGGGAAAGAATTAAAGTCTTGGCTCTGTCACTTATTAGCTCTGTGATCTTGAGCAAATCACTCACTCTTTCTGAATTTTAGGTTCCTCATCTACAATGAGGAGAAGATTGGATGAAAGGAGGCATGTAAAGTA... |
Task1_train_19674 | This variant affects gene PRKD1 (protein kinase D1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital heart defects and ectodermal dysplasia | ATATGTGCAGGTTTATTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCTGGTACCCATTAGTTATTTTTCCTGATCCTCCCACCCTCCAACCTTGAAGGGACCCCGTATGTGTTATTCCCCACTATGTGACCATGTGTTCTCATCATTTACCTCCCACTTATAAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGATCCTTCCATGATTTTCAATTTCCTTTTTTATTTCAGTTTATATGCATCTGAGTTTAT... | ATATGTGCAGGTTTATTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCTGGTACCCATTAGTTATTTTTCCTGATCCTCCCACCCTCCAACCTTGAAGGGACCCCGTATGTGTTATTCCCCACTATGTGACCATGTGTTCTCATCATTTACCTCCCACTTATAAGTGAGAACATGTGGTATTTGCTTTTCTGTTCCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGATCCTTCCATGATTTTCAATTTCCTTTTTTATTTCAGTTTATATGCATCTGAGTTTAT... |
Task1_train_19675 | This sequence change occurs on Chromosome 14, altering COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nonsyndromic genetic hearing loss | GTAACCCCTATAATCAGAAGCACTCGCGGTCTCACTCTACACGCTAGAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGAT... | GTAACCCCTATAATCAGAAGCACTCGCGGTCTCACTCTACACGCTAGAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGAT... |
Task1_train_19676 | Consider a variant on Chromosome 14 in gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | GAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCT... | GAGAGTTTAAAAAGTTTGTACCACGTGTAGAGGTCCGGGTATGGGTGTGTGGTTTGGTGTATTTTCCAGTGTAAAAGGCAACGCTTTCCTAAGAGCTACCGTTTGTTTTCCTTGAAAGTAGGAATGAGGGTTAAGTATCCCTCATGGCTGTATTTCTCCCGCTCTACTTAACAAAAGTCAGTGTTCGCAACTAAAGGCGGTCGGTCTTGGCACCGGATTCCGATGCCGCCCCCATCTCAGCGGAAAATGGGAGGAAGGATTAAGGCTGTTTGATGATAGGTATGAGGCTGTTTAGGGGTAAGGATTTTAACCTCTCAGCT... |
Task1_train_19677 | Mutation context: Chromosome 14, Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCA... | TTGAGATTTAAAAATTTTTTTTTTTCTTCTGGAGACAAGATCTTATTCTGTAACCCAGGATGGAGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCA... |
Task1_train_19678 | This alteration in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATA... | AGTGCAGTGATGCAATCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATA... |
Task1_train_19679 | A mutation in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | TCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTAT... | TCATAGCTCATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTAT... |
Task1_train_19680 | The variant affects gene LOC100506071, COCH (uncharacterized LOC100506071| cochlin), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary hearing loss and deafness | CATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACC... | CATTGCAAGCTTGAACTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCTCCAGTGGCGGAGAGTACAGGCATGCACCACCACGTGTGGCCATTTAAAAAAAATTTTTTTTTTTTAGAAGAGATGAGGTCTTGCTATGTTGTCCAGACTGGTCTTGACCTCCTGGACTCAAGCAAATCCTCTTGTCTTGGCCTGCTAAAGTGCTGGGATTATAGGCATGAGTCACCACGCCCAGCCAAGATTTTTTATATTTCTATAATTAATATTAAATGACTTTTATTTTCTAGTTCAGATATAGTTCCAATTATGTATTTCCAACC... |
Task1_train_19681 | Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TATAATTCATTTCACCTTTGTCCCTTTAAAAAAATGTTGACGGTCACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTC... | TATAATTCATTTCACCTTTGTCCCTTTAAAAAAATGTTGACGGTCACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTC... |
Task1_train_19682 | This variant lies on Chromosome 14 and affects the gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | CACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGA... | CACATCAATGAAATTGTTTCTCCTGAACAGAGAGCTCTGAGTTAATAGATCCACACTACTTAGAGCCTCTGGGGTCCCACACTGGAACAGACCCTAGTCTCATACCCAGCCACTTCCTCATTTAGTTTAGCTACCTGGTGCCCAACTCTGCGGACTTCTGTTAAACCCGAGGCTCTGAGCCAAGCCCGATTTCAAGTTCTCCGTATAGTTTAGGCATGGACTTTGCAGCCAGACAACTTGAACTTAAAATGCAGCTGTGTTTCATCAGGCAAACTCCCTAAATGCTCTGAGACTCAGTTTCTTCATTTACATAATTGGGA... |
Task1_train_19683 | Here is a genetic alteration in LOC100506071, COCH (uncharacterized LOC100506071| cochlin) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | AGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTG... | AGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTG... |
Task1_train_19684 | Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Bilateral sensorineural hearing impairment | CTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCC... | CTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCC... |
Task1_train_19685 | This alteration in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... |
Task1_train_19686 | A sequence alteration has been identified in COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 9 | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... |
Task1_train_19687 | Gene COCH, LOC100506071 (cochlin| uncharacterized LOC100506071) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Rare genetic deafness | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... | TACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCA... |
Task1_train_19688 | A variant affecting Chromosome 14, within the gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21 | CTTAATTTTTACATAACGTTTATTGGAGCCATCTAGGCATATGTAAAATCTACTCTTACCGTAGCAAATGTTAGGAGAGATCTTCAGTTTTTTTGGAACATTATGCCAAGAGTTCATCTTTAGGCAAGCTTGGTATTCTTCTAGAAGCAGGATAGATGATAGATCTTTCCTAGCATTTTGAAGGAAACTTGAAAATCTAGTGATGATAAAATTGACCCTAGCAATCTTATATTAGTTAGAACACTTAGTTATGTTCTTGTTTCATGGAAACATAAACTTAAAAAGCTGTTATTTTACTTGACAGGTAATGTTAGAAGATC... | CTTAATTTTTACATAACGTTTATTGGAGCCATCTAGGCATATGTAAAATCTACTCTTACCGTAGCAAATGTTAGGAGAGATCTTCAGTTTTTTTGGAACATTATGCCAAGAGTTCATCTTTAGGCAAGCTTGGTATTCTTCTAGAAGCAGGATAGATGATAGATCTTTCCTAGCATTTTGAAGGAAACTTGAAAATCTAGTGATGATAAAATTGACCCTAGCAATCTTATATTAGTTAGAACACTTAGTTATGTTCTTGTTTCATGGAAACATAAACTTAAAAAGCTGTTATTTTACTTGACAGGTAATGTTAGAAGATC... |
Task1_train_19689 | Gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21 | TTGAATAGATGTGTTGACATATGAATGAATCTGTTTGACCCAATATCATCTACACTTTTTATTTTAAAAGTATGATTATAGGCCAGGCACGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGTGGGAGGATCACTTGAGCCTAGGAGTTTAAGACCAGCTTGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTGACCAGGCATGGTGGCACACGTCTATAGTCCCAGCTATTAGGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAGGTTGAGGTTGTAGTGAGCTGTGAGCATGC... | TTGAATAGATGTGTTGACATATGAATGAATCTGTTTGACCCAATATCATCTACACTTTTTATTTTAAAAGTATGATTATAGGCCAGGCACGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGTGGGAGGATCACTTGAGCCTAGGAGTTTAAGACCAGCTTGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTGACCAGGCATGGTGGCACACGTCTATAGTCCCAGCTATTAGGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAGGTTGAGGTTGTAGTGAGCTGTGAGCATGC... |
Task1_train_19690 | This genomic variant is located on Chromosome 14, within the NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 21 | TGGAGATAGTACTGAATTCCCAAAACACAGCGTGATTTATTTTTTGTGATAGTGTGCATCAGCAAAAGGGCATATATTAGATGCTTGGAAAATGCTTTGCTATAGATTTATGTCTTTTTACTATTTGTCTTCATATATAATTATTGGGGGCAACTTTAGTTTTTTCTATTTCTCTTTTCAGAAAGAATAACAATTTTTTCGCCTTCTTATCTATATGTTTCATTGTGGACTATCAGTACTGTTCTTCATTTAAAATGCAAATGTTCTAATAATCTACAATCATAACCTTATGGTAGAACTGATACAGACATTGTAATCTC... | TGGAGATAGTACTGAATTCCCAAAACACAGCGTGATTTATTTTTTGTGATAGTGTGCATCAGCAAAAGGGCATATATTAGATGCTTGGAAAATGCTTTGCTATAGATTTATGTCTTTTTACTATTTGTCTTCATATATAATTATTGGGGGCAACTTTAGTTTTTTCTATTTCTCTTTTCAGAAAGAATAACAATTTTTTCGCCTTCTTATCTATATGTTTCATTGTGGACTATCAGTACTGTTCTTCATTTAAAATGCAAATGTTCTAATAATCTACAATCATAACCTTATGGTAGAACTGATACAGACATTGTAATCTC... |
Task1_train_19691 | A change on Chromosome 14 affects gene ARHGAP5 (Rho GTPase activating protein 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pulmonary artery atresia | TTAAGGAATAAGTTTTAAGGAACCCTATAATGTAAAAAGCAGGTTGTTTTGTATTTTTAAGTTGTGAGGGAGTTGCAAGTCAACTAGTACATTTTAGTTATCACCAGCATCGCCTCCAGTGACAGAAGGCAGGAAAATTAAGGGAGTGGAAAGGACTAGCTGTTTCTTCAAACTCATAGGAAGGGGTAATTAGAGGTAAAATGCACATTTGGTTTAATAGAGGTTTATTTTAAAGTTTGTGAGACATTATGTTAGATTTTGTATTTTGTTAGGTTTGCCTTAAATTTTGAGGTCATCTTGTATTTATAACAGTAAATCAT... | TTAAGGAATAAGTTTTAAGGAACCCTATAATGTAAAAAGCAGGTTGTTTTGTATTTTTAAGTTGTGAGGGAGTTGCAAGTCAACTAGTACATTTTAGTTATCACCAGCATCGCCTCCAGTGACAGAAGGCAGGAAAATTAAGGGAGTGGAAAGGACTAGCTGTTTCTTCAAACTCATAGGAAGGGGTAATTAGAGGTAAAATGCACATTTGGTTTAATAGAGGTTTATTTTAAAGTTTGTGAGACATTATGTTAGATTTTGTATTTTGTTAGGTTTGCCTTAAATTTTGAGGTCATCTTGTATTTATAACAGTAAATCAT... |
Task1_train_19692 | A mutation in CFL2 (cofilin 2), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Nemaline myopathy 7 | TATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAA... | TATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAA... |
Task1_train_19693 | Gene CFL2 (cofilin 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Nemaline myopathy 7 | TACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTT... | TACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAAAAATAATTTCTGATCTTCATATTAACACATAGGAAATAAATACACTAATGTTTATAAAAGTACCATTCTTTAACAATGGTATTTTATATTAGTTGGCCTTAAGATAGAATACTTTTTAAACCAAATAGATCCAACAAATCTGGAAAATATCACACATGAATGCTGTACAAAAAAAATTCTCAAATGACCAGTGCAGAGATTAGTAATAGCTGTTT... |
Task1_train_19694 | Here is a genetic alteration in BAZ1A (bromodomain adjacent to zinc finger domain 1A) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; VATER/VACTERL association with CNS malformations | CAGTGTCTCTCATATAACCTACTAGACAAGTTGTAACAACTCTCAATGTTAACCTTTTTCTTTGTCTAAATATTTAATAAGTTGTGCAGATGAAAATACAGACATACTAAACAATTAATTTGATTTTCCCCCCTTCAACTTAAAAAAACTTTAATGAAAATTTCAGAAGTGGGAAAATAAGCAATATTGTGTCTTATCCTTTTACTCTTTTGGAATCACAGTGTTAGTAGTAACAGTATCTTACATTTATAAAACCTGCATGATTTGCAAATAATTTTAAATTGAAATTTTAATTTAGCTAATTGTGTATTAATATGTGG... | CAGTGTCTCTCATATAACCTACTAGACAAGTTGTAACAACTCTCAATGTTAACCTTTTTCTTTGTCTAAATATTTAATAAGTTGTGCAGATGAAAATACAGACATACTAAACAATTAATTTGATTTTCCCCCCTTCAACTTAAAAAAACTTTAATGAAAATTTCAGAAGTGGGAAAATAAGCAATATTGTGTCTTATCCTTTTACTCTTTTGGAATCACAGTGTTAGTAGTAACAGTATCTTACATTTATAAAACCTGCATGATTTGCAAATAATTTTAAATTGAAATTTTAATTTAGCTAATTGTGTATTAATATGTGG... |
Task1_train_19695 | This mutation is located in gene SRP54 (signal recognition particle 54) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Shwachman-Diamond syndrome 1 | GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCC... | GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCC... |
Task1_train_19696 | A variant was discovered in gene SRP54 (signal recognition particle 54), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant | GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCC... | GTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCTCC... |
Task1_train_19697 | This variant affects the gene SRP54 (signal recognition particle 54) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant | ATGCTTCATGCTTTTTTAGAAGTAGATTCTGTATTTAATACTTTATAGATTTTCCTCTTCTAAATTGAAATTGGGGTCATTTTGGCTTTTTCAAAATAGATTATAGGTAAATTAACTTTCCGAATTAGTAGTATTTGGAAGTTTTGTCGTTTTGTTAAATCATTTGTCCATGTTATATAGCTATACAGAAATGGATCCTGTCATCATTGCTTCTGAAGGAGTAGAGAAATTTAAAAATGAAAATTTTGAAATTATTATTGTTGATACAAGTGGCCGCCACAAACAAGAAGACTCTTTGTTTGAAGAAATGCTTCAAGTTG... | ATGCTTCATGCTTTTTTAGAAGTAGATTCTGTATTTAATACTTTATAGATTTTCCTCTTCTAAATTGAAATTGGGGTCATTTTGGCTTTTTCAAAATAGATTATAGGTAAATTAACTTTCCGAATTAGTAGTATTTGGAAGTTTTGTCGTTTTGTTAAATCATTTGTCCATGTTATATAGCTATACAGAAATGGATCCTGTCATCATTGCTTCTGAAGGAGTAGAGAAATTTAAAAATGAAAATTTTGAAATTATTATTGTTGATACAAGTGGCCGCCACAAACAAGAAGACTCTTTGTTTGAAGAAATGCTTCAAGTTG... |
Task1_train_19698 | A mutation found in SRP54 (signal recognition particle 54) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neutropenia, severe congenital, 8, autosomal dominant | TTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACC... | TTGGGCACCTATATCTATGTGGTAGGGACTTAATTTCATTATTTTTGTTCTCCATTAAATATAAAATTTTCATAAGTATGAAAAAGTAATTTCCTTTCTCAGTCATCCTATTAGTATGCATAAGAAAACATTTAAAAATTAGTAATTAGGCCGGGTATGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGATGGATCACAAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACC... |
Task1_train_19699 | Here is a genetic alteration in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | AGGAGAGTCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAATGGAGTTTGCACCATTGTACTCCAGCCTGGGCGACACAGCAAGACTCGTCTCCAAAAAAAAAAAAAAAAACAGAATTCCAGTTCCTTCTGGATCATAGTTCATATTTACCTTCTTCTAATCTTTCAGCATCTCATAAAAACTAAATGTAATGTATAACTGAAGTCTTTATCCTGAATTAACATAAATTCTTTAACAAAAATCCTTAACAAAATGAAGTTTGTTTTTTGGTTTGGGACAGGGTCTTACTGTGTTGCCCAGGCTGGAGTGCAATAGTGCAA... | AGGAGAGTCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAATGGAGTTTGCACCATTGTACTCCAGCCTGGGCGACACAGCAAGACTCGTCTCCAAAAAAAAAAAAAAAAACAGAATTCCAGTTCCTTCTGGATCATAGTTCATATTTACCTTCTTCTAATCTTTCAGCATCTCATAAAAACTAAATGTAATGTATAACTGAAGTCTTTATCCTGAATTAACATAAATTCTTTAACAAAAATCCTTAACAAAATGAAGTTTGTTTTTTGGTTTGGGACAGGGTCTTACTGTGTTGCCCAGGCTGGAGTGCAATAGTGCAA... |
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