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_23500 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... |
Task1_train_23501 | A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Li-Fraumeni syndrome | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... |
Task1_train_23502 | A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... | AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA... |
Task1_train_23503 | A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... |
Task1_train_23504 | Gene TP53 (tumor protein p53), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Li-Fraumeni syndrome 1 | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... |
Task1_train_23505 | Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... |
Task1_train_23506 | The gene TP53 (tumor protein p53) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Li-Fraumeni syndrome 1 | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... |
Task1_train_23507 | The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neoplasm | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... | ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAG... |
Task1_train_23508 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Li-Fraumeni syndrome | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... |
Task1_train_23509 | The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... |
Task1_train_23510 | A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Li-Fraumeni syndrome 1 | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... | GTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGC... |
Task1_train_23511 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Li-Fraumeni syndrome | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23512 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Li-Fraumeni syndrome 1 | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23513 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary cancer-predisposing syndrome | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23514 | Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neoplasm | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23515 | A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Li-Fraumeni syndrome | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23516 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... | CCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGAC... |
Task1_train_23517 | The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCAC... | TCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCAC... |
Task1_train_23518 | A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... |
Task1_train_23519 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neoplasm | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... |
Task1_train_23520 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... |
Task1_train_23521 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Li-Fraumeni syndrome | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... |
Task1_train_23522 | A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Li-Fraumeni syndrome 1 | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... | AGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAA... |
Task1_train_23523 | With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Li-Fraumeni syndrome 1 | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... |
Task1_train_23524 | This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Adrenocortical carcinoma, hereditary | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... |
Task1_train_23525 | Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Li-Fraumeni syndrome | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... |
Task1_train_23526 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... | GGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAA... |
Task1_train_23527 | A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Li-Fraumeni syndrome | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAA... | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAA... |
Task1_train_23528 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAA... | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAA... |
Task1_train_23529 | Gene TP53 (tumor protein p53), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Adrenocortical carcinoma, hereditary | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... |
Task1_train_23530 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Li-Fraumeni syndrome | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... |
Task1_train_23531 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... |
Task1_train_23532 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Li-Fraumeni syndrome 1 | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... |
Task1_train_23533 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast and/or ovarian cancer | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATG... |
Task1_train_23534 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Li-Fraumeni syndrome | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... |
Task1_train_23535 | The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Li-Fraumeni syndrome 1 | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... |
Task1_train_23536 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... | GGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTA... |
Task1_train_23537 | This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Li-Fraumeni syndrome | TCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGA... | TCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGA... |
Task1_train_23538 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome | AGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAA... | AGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAA... |
Task1_train_23539 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Li-Fraumeni syndrome | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23540 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Adrenocortical carcinoma, hereditary | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23541 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23542 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Squamous cell carcinoma | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23543 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; TP53-related disorder | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23544 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Li-Fraumeni syndrome 1 | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... | ATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTA... |
Task1_train_23545 | This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Li-Fraumeni syndrome | GCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGG... | GCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGG... |
Task1_train_23546 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neoplasm | GCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGG... | GCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGG... |
Task1_train_23547 | Gene TP53 (tumor protein p53) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Li-Fraumeni syndrome | CTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGT... | CTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGT... |
Task1_train_23548 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neoplasm | CTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGT... | CTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGT... |
Task1_train_23549 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Li-Fraumeni syndrome | CCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGT... | CCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGT... |
Task1_train_23550 | Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neoplasm | CCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGT... | CCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGT... |
Task1_train_23551 | Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance. | Pathogenic; Acute myeloid leukemia | GAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGT... | GAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGT... |
Task1_train_23552 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | AAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTG... | AAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTG... |
Task1_train_23553 | This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | GTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGT... | GTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGT... |
Task1_train_23554 | Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Acute myeloid leukemia | AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCT... | AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCT... |
Task1_train_23555 | This sequence change occurs on Chromosome 17, altering TP53 (tumor protein p53). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Li-Fraumeni syndrome | GATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACC... | GATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACC... |
Task1_train_23556 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Li-Fraumeni syndrome 1 | GCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGT... | GCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGT... |
Task1_train_23557 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | GCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGT... | GCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGT... |
Task1_train_23558 | A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... |
Task1_train_23559 | Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... |
Task1_train_23560 | This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Li-Fraumeni syndrome 1 | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... | CTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTT... |
Task1_train_23561 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Li-Fraumeni syndrome | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTT... | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTT... |
Task1_train_23562 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Li-Fraumeni syndrome | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTT... | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTT... |
Task1_train_23563 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome | AGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCC... | AGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCC... |
Task1_train_23564 | This alteration in TP53 (tumor protein p53) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neoplasm | AGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCC... | AGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCC... |
Task1_train_23565 | This mutation is located in gene TP53 (tumor protein p53) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | AGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGAT... | AGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGAT... |
Task1_train_23566 | A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | AGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGAT... | AGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGAT... |
Task1_train_23567 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Li-Fraumeni syndrome | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... |
Task1_train_23568 | Gene TP53 (tumor protein p53), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... |
Task1_train_23569 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Li-Fraumeni syndrome 1 | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... |
Task1_train_23570 | This is a variant in TP53 (tumor protein p53), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Neoplasm | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... | AAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAG... |
Task1_train_23571 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... |
Task1_train_23572 | This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Li-Fraumeni syndrome | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... |
Task1_train_23573 | Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Li-Fraumeni syndrome 1 | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... | CTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCAT... |
Task1_train_23574 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Li-Fraumeni syndrome | TATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATT... | TATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATT... |
Task1_train_23575 | This alteration in TP53 (tumor protein p53) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Li-Fraumeni syndrome 1 | TATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATT... | TATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATT... |
Task1_train_23576 | A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Li-Fraumeni syndrome 1 | GATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTG... | GATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTG... |
Task1_train_23577 | Gene TP53 (tumor protein p53), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | GATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTG... | GATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTG... |
Task1_train_23578 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Li-Fraumeni syndrome 1 | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... |
Task1_train_23579 | This alteration in TP53 (tumor protein p53) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... |
Task1_train_23580 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Li-Fraumeni syndrome | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... | TGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAG... |
Task1_train_23581 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glioma susceptibility 1 | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23582 | A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bone osteosarcoma | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23583 | A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial pancreatic carcinoma | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23584 | This is a variant in TP53 (tumor protein p53), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hepatocellular carcinoma | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23585 | With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adrenocortical carcinoma, hereditary | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23586 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Choroid plexus papilloma | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23587 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Colorectal cancer | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23588 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial cancer of breast | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23589 | The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Nasopharyngeal carcinoma | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23590 | Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23591 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Basal cell carcinoma, susceptibility to, 7 | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23592 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bone marrow failure syndrome 5 | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23593 | This sequence change occurs on Chromosome 17, altering TP53 (tumor protein p53). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23594 | Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23595 | A variant on Chromosome 17 in gene TP53 (tumor protein p53) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Li-Fraumeni syndrome | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23596 | With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neoplasm | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... | TCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGT... |
Task1_train_23597 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hereditary cancer-predisposing syndrome | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... |
Task1_train_23598 | An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Li-Fraumeni syndrome 1 | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... |
Task1_train_23599 | The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Li-Fraumeni syndrome | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... | TTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAG... |
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