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_20200 | The following genetic variant occurs in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thyroid adenoma, hyperfunctioning, somatic | ATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGA... | ATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGA... |
Task1_train_20201 | Here’s a variant in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | CACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA... | CACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA... |
Task1_train_20202 | This sequence variant lies in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thyroid adenoma, hyperfunctioning, somatic | CACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA... | CACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA... |
Task1_train_20203 | Gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | AAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTA... | AAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTA... |
Task1_train_20204 | The gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid adenoma, hyperfunctioning, somatic | AAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTA... | AAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTA... |
Task1_train_20205 | A change on Chromosome 14 affects gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC | CAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCA... | CAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCA... |
Task1_train_20206 | This gene mutation involves TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | CCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGC... | CCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGC... |
Task1_train_20207 | An alteration has been detected in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | TACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGCTAATTTTTGGATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTCAAGCTCCTGACCTCAAGTGATGTGCCTGCCTTGGCCTCCCAAAGT... | TACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGCTAATTTTTGGATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTCAAGCTCCTGACCTCAAGTGATGTGCCTGCCTTGGCCTCCCAAAGT... |
Task1_train_20208 | A mutation found in GALC (galactosylceramidase) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | TCTGCTCAATAGCTTTAGTCATCAGAGAAATGTACATACTATACACCCACAATTAAGGGTTAAAATTAAAAAGAATGACAACATGAAGCACTGACAAGAATGCAGAGTAACTGGAACTTTTAAACATTGTTGATAGAAGTGTAAAACCATACAATCATTTTGGAAAACAGTTTGGTAGTTTCTTATAAAGTTAAACATACAATTAACATAAGACCCAGGAATTTCACTCCTCAGTATTCATCCAGAAGAAATAAAAATATATTTGACACAAAGATTGTAAATGTAGACAGTTTTAATTGTAGTATCAGAAACTGGTGGGG... | TCTGCTCAATAGCTTTAGTCATCAGAGAAATGTACATACTATACACCCACAATTAAGGGTTAAAATTAAAAAGAATGACAACATGAAGCACTGACAAGAATGCAGAGTAACTGGAACTTTTAAACATTGTTGATAGAAGTGTAAAACCATACAATCATTTTGGAAAACAGTTTGGTAGTTTCTTATAAAGTTAAACATACAATTAACATAAGACCCAGGAATTTCACTCCTCAGTATTCATCCAGAAGAAATAAAAATATATTTGACACAAAGATTGTAAATGTAGACAGTTTTAATTGTAGTATCAGAAACTGGTGGGG... |
Task1_train_20209 | This variant impacts the gene GALC (galactosylceramidase) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAG... | CTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAG... |
Task1_train_20210 | The variant affects gene GALC (galactosylceramidase), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Galactosylceramide beta-galactosidase deficiency | TTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTTTGAAGTAAGACCTAGATTCAAATTCGAGTTCAGTCTGTCGCCCTGGACAAGCTATTTAACTGCCCTGCATCTAAAGTTTCTTCATTTCCAGGTTTGCA... | TTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTTTGAAGTAAGACCTAGATTCAAATTCGAGTTCAGTCTGTCGCCCTGGACAAGCTATTTAACTGCCCTGCATCTAAAGTTTCTTCATTTCCAGGTTTGCA... |
Task1_train_20211 | This sequence variant lies in GALC (galactosylceramidase) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | AAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGAT... | AAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGAT... |
Task1_train_20212 | This sequence change occurs on Chromosome 14, altering GALC (galactosylceramidase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | AAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGAT... | AAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGAT... |
Task1_train_20213 | A variant has been detected on Chromosome 14 in GALC (galactosylceramidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AAACAATTTGGTAGTTCCTCAAAATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAG... | AAACAATTTGGTAGTTCCTCAAAATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAG... |
Task1_train_20214 | A change on Chromosome 14 affects gene GALC (galactosylceramidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Galactosylceramide beta-galactosidase deficiency | AGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAAC... | AGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAAC... |
Task1_train_20215 | A genetic alteration is present in GALC (galactosylceramidase) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... |
Task1_train_20216 | A mutation in GALC (galactosylceramidase), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... |
Task1_train_20217 | An alteration has been detected in GALC (galactosylceramidase) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... | CAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTA... |
Task1_train_20218 | This sequence variant lies in GALC (galactosylceramidase) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | GGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTACCAAAAAAAGGTTTAAAAAGTTAATA... | GGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTACCAAAAAAAGGTTTAAAAAGTTAATA... |
Task1_train_20219 | Consider a variant on Chromosome 14 in gene GALC (galactosylceramidase). Determine its clinical classification and disease relevance. | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CAGTCCAGAGCAGGTGCTAAACCCTAAAACTTTGACTCTCTGCTTCTCAGGAAATCCAAGGACAAAAGGGAAGTTATTGAACTTGGTATTGTTGGGTCCCTCACAGATTAAAAAAAACAAAGCTTACCCACAGAATTTTATTTTTCCTATCAAGTCCTCATCCAGTATAAAAAAAAGAGACTGACATTCTTAGCAAATCAAAGCCTTCTAATTCTATCAGTACAAAGTAGAAATAATAGTCCTAATTTTCAAAACACCTTACTACTAGTGAATATTTTAAGTTCTTATAATTTTGCCCATGGTTTGCAAGATGTGTGGTA... | CAGTCCAGAGCAGGTGCTAAACCCTAAAACTTTGACTCTCTGCTTCTCAGGAAATCCAAGGACAAAAGGGAAGTTATTGAACTTGGTATTGTTGGGTCCCTCACAGATTAAAAAAAACAAAGCTTACCCACAGAATTTTATTTTTCCTATCAAGTCCTCATCCAGTATAAAAAAAAGAGACTGACATTCTTAGCAAATCAAAGCCTTCTAATTCTATCAGTACAAAGTAGAAATAATAGTCCTAATTTTCAAAACACCTTACTACTAGTGAATATTTTAAGTTCTTATAATTTTGCCCATGGTTTGCAAGATGTGTGGTA... |
Task1_train_20220 | The gene GALC (galactosylceramidase) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | TATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGATGGATAAAAGGAACATATATACATCTATTAGGTTTAGAGTCATGAAGCATGGGGTTTT... | TATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGATGGATAAAAGGAACATATATACATCTATTAGGTTTAGAGTCATGAAGCATGGGGTTTT... |
Task1_train_20221 | This alteration occurs within gene GALC (galactosylceramidase) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CGATTCAGAATTTAAAAGTTAAAGGAAAAGAGACTGAAGAAACATTGCAAACTTCATTTCTTACCAATGAGTGTAATATTGGGATTCCTCTTCTTAGCTTCTTTCATCAACCACCACTCGTATCCTCGGAAATAATTCTCATCTAGTGCATAATGCATGTGGGAGGGCTCAGTGCCGTCTGAATAGAGGAGAGCAAAAACGGAAGTAATGATCCATGAATGGTACTTCCTAGGACCATCTCACTCCCCACCCCCACCCCAGACACACACTTCACAAAAGCAGTATTCCAGTTCTAATCCTGAAGTTGGGGAAATCATAAT... | CGATTCAGAATTTAAAAGTTAAAGGAAAAGAGACTGAAGAAACATTGCAAACTTCATTTCTTACCAATGAGTGTAATATTGGGATTCCTCTTCTTAGCTTCTTTCATCAACCACCACTCGTATCCTCGGAAATAATTCTCATCTAGTGCATAATGCATGTGGGAGGGCTCAGTGCCGTCTGAATAGAGGAGAGCAAAAACGGAAGTAATGATCCATGAATGGTACTTCCTAGGACCATCTCACTCCCCACCCCCACCCCAGACACACACTTCACAAAAGCAGTATTCCAGTTCTAATCCTGAAGTTGGGGAAATCATAAT... |
Task1_train_20222 | This gene mutation involves GALC, LOC130056217 (galactosylceramidase| ATAC-STARR-seq lymphoblastoid silent region 5988) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | GAAATAACTTCCTCCTCCCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCG... | GAAATAACTTCCTCCTCCCTAATCCCTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCG... |
Task1_train_20223 | The gene GALC, LOC130056217 (galactosylceramidase| ATAC-STARR-seq lymphoblastoid silent region 5988) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | CTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGA... | CTGAAAATGGTTATTAACCAAAATTAGTAATGTGCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGA... |
Task1_train_20224 | A mutation found in GALC, LOC130056217 (galactosylceramidase| ATAC-STARR-seq lymphoblastoid silent region 5988) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | GCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTT... | GCAAGACATCATCCTAAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTT... |
Task1_train_20225 | An alteration has been detected in GALC (galactosylceramidase) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Galactosylceramide beta-galactosidase deficiency | AAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG... | AAGTACTTTAGGTCTATCCTCACGGCGCTCCTACCATGCAGGTATAACTGTATCCCAAAAAAAGAAAGTGAGGCAGAGAGGAGTTATAATAGATAACCCACCAAGGCCACACAGTGAAGTGGCAGAACCCAGAAGACACTCTTGGCAATCTTCTCTTTAGTCTACATTCTTTTTGTTTTGTTTCGCTTTGGTTTGGTTTTTGGGTTTTTTTGTTTGTTTGTGTTTTGAACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG... |
Task1_train_20226 | A variant found in Chromosome 14 affects LOC130056226, SPATA7 (ATAC-STARR-seq lymphoblastoid active region 8840| spermatogenesis associated 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis | GGAGACCAAGTTTATTGTGCAGAGGAAGCTCTCAGTATAGCAGACCTCAGAGAGAGAGCAGATTGTAAAATTTGTCTTGTCGGACCTAAAAGGGTGCCTGGCTCTTAGTTGGTTATCTCCTGGATTTGGAAAGGAAAGAAGGAAAACAAAGGGGAAAAGAGATTCTCTATAGAATGTGGTTTTTTCCCACAAGAGATTTTGCAGGGCAATTTCAAGATATGGCAAGGAAATATATCTTGGGGTTAAATATTTTGATTTTTTTTTCCTTGTCTCATAATATTATGCCAGAATCAGATTGGAAAGTAAGTCATGGTATATAG... | GGAGACCAAGTTTATTGTGCAGAGGAAGCTCTCAGTATAGCAGACCTCAGAGAGAGAGCAGATTGTAAAATTTGTCTTGTCGGACCTAAAAGGGTGCCTGGCTCTTAGTTGGTTATCTCCTGGATTTGGAAAGGAAAGAAGGAAAACAAAGGGGAAAAGAGATTCTCTATAGAATGTGGTTTTTTCCCACAAGAGATTTTGCAGGGCAATTTCAAGATATGGCAAGGAAATATATCTTGGGGTTAAATATTTTGATTTTTTTTTCCTTGTCTCATAATATTATGCCAGAATCAGATTGGAAAGTAAGTCATGGTATATAG... |
Task1_train_20227 | Here’s a variant in SPATA7 (spermatogenesis associated 7) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not specified | AATGTTATTGAGTACTTATTGTATGCCAACCACTGTTTTGCTCAACTACTTTAACTTCCTCTTTCTAGGGCAATGTGTCAGTATTCCCTGAAGCCCCCTTCAACTCGTAAAATCTACTCTGAGTAAGATCTTTTTTAAGTCTTCGTTTTGCATAGTGGAATCAAGGATTAAGAATCAAAGAAACCATATTAAATAAGTCAGGATTGAACAATAATCTCTTTTTTTAAAACTGGCAAGTAATAAATGTACATATTCATGGAGTACCTAGTGATATTTTGATACATATACTGTACAGTGATTAGAACAGTTTAATTAGCATA... | AATGTTATTGAGTACTTATTGTATGCCAACCACTGTTTTGCTCAACTACTTTAACTTCCTCTTTCTAGGGCAATGTGTCAGTATTCCCTGAAGCCCCCTTCAACTCGTAAAATCTACTCTGAGTAAGATCTTTTTTAAGTCTTCGTTTTGCATAGTGGAATCAAGGATTAAGAATCAAAGAAACCATATTAAATAAGTCAGGATTGAACAATAATCTCTTTTTTTAAAACTGGCAAGTAATAAATGTACATATTCATGGAGTACCTAGTGATATTTTGATACATATACTGTACAGTGATTAGAACAGTTTAATTAGCATA... |
Task1_train_20228 | Here is a genetic alteration in SPATA7 (spermatogenesis associated 7) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Leber congenital amaurosis | ATTAACTACCCCACTTAACCTGCAGCCCTCTACTACCCTTCCCAGCCTCTGTTAACCATCCTTCTACTCTCTATGCCCATGAGTTCAATTGTTTTGATTTTTAGATCCCACAAATACGTGGGAGAATGCAATGTTTGTCTTTCTGTGCCAGGCTCATTTCACTTAATATAATGATCTCCAGTTCCGTCCATATTGTTGCAGATGACAGGATCTCACTTTTTTAATGGCTGAATAGTACTCCATGGTGTATATGTACTACGTTTTTTTATCCATTCATTTGTTAATGGACACTTAGTTGCTTCCAAATCTTAGCTGTCATA... | ATTAACTACCCCACTTAACCTGCAGCCCTCTACTACCCTTCCCAGCCTCTGTTAACCATCCTTCTACTCTCTATGCCCATGAGTTCAATTGTTTTGATTTTTAGATCCCACAAATACGTGGGAGAATGCAATGTTTGTCTTTCTGTGCCAGGCTCATTTCACTTAATATAATGATCTCCAGTTCCGTCCATATTGTTGCAGATGACAGGATCTCACTTTTTTAATGGCTGAATAGTACTCCATGGTGTATATGTACTACGTTTTTTTATCCATTCATTTGTTAATGGACACTTAGTTGCTTCCAAATCTTAGCTGTCATA... |
Task1_train_20229 | A mutation on Chromosome 14 affecting TTC8 (tetratricopeptide repeat domain 8) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 51 | CTGGACAACTGACTGAGTTTTAAACCTCATTGTCATTGTATGTGTTAGCCATTTTGTCATCAACCAATAAGTTGAATAGTTACTTAAAACTTATCATCATCATTGCCTCCGTTAATACCATTAAACATAAAGACACTGAAATTGAAAGGTGAAAAGATTTGCAAAGAGCATTTGGCCTCATGTTCTGAACCTTGATGAGGACCTGAAACAGAATCACCTGTTTTGTGCAGCATTGTTGGTTCTTGTCCCAATATTTTTTCAGTCTAAATAAATTATATTCACTGATTCTCTTTTAAGTACTTATTTCATCCTACATATGA... | CTGGACAACTGACTGAGTTTTAAACCTCATTGTCATTGTATGTGTTAGCCATTTTGTCATCAACCAATAAGTTGAATAGTTACTTAAAACTTATCATCATCATTGCCTCCGTTAATACCATTAAACATAAAGACACTGAAATTGAAAGGTGAAAAGATTTGCAAAGAGCATTTGGCCTCATGTTCTGAACCTTGATGAGGACCTGAAACAGAATCACCTGTTTTGTGCAGCATTGTTGGTTCTTGTCCCAATATTTTTTCAGTCTAAATAAATTATATTCACTGATTCTCTTTTAAGTACTTATTTCATCCTACATATGA... |
Task1_train_20230 | A genetic alteration is present in TDP1 (tyrosyl-DNA phosphodiesterase 1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | GTTATTTGCAGTTGAAGCTTTTGCAGGAAAAAGCTCTATTCTGCTTTACTTGGTGCGTTCTCGTCCTCAATGAGGTAATTTACTTTTATTCTCGACACAGAAGAATTGTAAATAGTCCTTACATTCCTGATGGGAGAAATCTTTTTAATGTGTTCATAATTCTTGCTCTGAATGTTGAATGGGTTTCTAAAAAGTGATTAGCGAGTTGTCATTAGTTTTCAGTATGTTTGTGTTACATGAGCCTTATTTAAAGGCATCCCATGACTATACTTCGTAAAGTATATGATCATCACTTACTTTTGCTTATAAGTCTGGATGTT... | GTTATTTGCAGTTGAAGCTTTTGCAGGAAAAAGCTCTATTCTGCTTTACTTGGTGCGTTCTCGTCCTCAATGAGGTAATTTACTTTTATTCTCGACACAGAAGAATTGTAAATAGTCCTTACATTCCTGATGGGAGAAATCTTTTTAATGTGTTCATAATTCTTGCTCTGAATGTTGAATGGGTTTCTAAAAAGTGATTAGCGAGTTGTCATTAGTTTTCAGTATGTTTGTGTTACATGAGCCTTATTTAAAGGCATCCCATGACTATACTTCGTAAAGTATATGATCATCACTTACTTTTGCTTATAAGTCTGGATGTT... |
Task1_train_20231 | This gene mutation involves NRDE2, PSMC1 (NRDE-2, necessary for RNA interference, domain containing| proteasome 26S subunit, ATPase 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | TGGCCAGCTGACTCTTGTTTTTAACCTGAAACAGAAATATCAGCAAGTAGAGCAGTATTGGAAATGATGTTTGAGCTCTTCCCTGAGATCAGTGGGAGGAACTGCCTCTCCCTTGGAAGGGCATGCCACAGCAGCTCTCACTGTGGCGTTCATCAAGAGCTGGTCCTGTCTCAGCTGTCTGAGCTGGCAGCAAGCCCACCCAGTAGCTACTTTTCTGGAGCAGTAGGCACTGCATGCCTGGAGCTCAGGAACACTTCGTGTATCTCCTTAGGGCCAAAGCTAGGATTCCCAGACCCTTTTTTCCAGCACTGATGGTTTCC... | TGGCCAGCTGACTCTTGTTTTTAACCTGAAACAGAAATATCAGCAAGTAGAGCAGTATTGGAAATGATGTTTGAGCTCTTCCCTGAGATCAGTGGGAGGAACTGCCTCTCCCTTGGAAGGGCATGCCACAGCAGCTCTCACTGTGGCGTTCATCAAGAGCTGGTCCTGTCTCAGCTGTCTGAGCTGGCAGCAAGCCCACCCAGTAGCTACTTTTCTGGAGCAGTAGGCACTGCATGCCTGGAGCTCAGGAACACTTCGTGTATCTCCTTAGGGCCAAAGCTAGGATTCCCAGACCCTTTTTTCCAGCACTGATGGTTTCC... |
Task1_train_20232 | Given a variant located on Chromosome 14 and affecting CALM1 (calmodulin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | TGATTGCTGATTTCCATCAGTAAGCAGGCTTTGAAGCACACTTCCCCACCCCTAAAAAAAAACCACGTATTTTGGTAAATCCTATATATATTCTAATGTACTGTATGACAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAG... | TGATTGCTGATTTCCATCAGTAAGCAGGCTTTGAAGCACACTTCCCCACCCCTAAAAAAAAACCACGTATTTTGGTAAATCCTATATATATTCTAATGTACTGTATGACAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAG... |
Task1_train_20233 | Consider a variant on Chromosome 14 in gene CALM1 (calmodulin 1). Determine its clinical classification and disease relevance. | Pathogenic; Long QT syndrome 14 | TGATTGCTGATTTCCATCAGTAAGCAGGCTTTGAAGCACACTTCCCCACCCCTAAAAAAAAACCACGTATTTTGGTAAATCCTATATATATTCTAATGTACTGTATGACAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAG... | TGATTGCTGATTTCCATCAGTAAGCAGGCTTTGAAGCACACTTCCCCACCCCTAAAAAAAAACCACGTATTTTGGTAAATCCTATATATATTCTAATGTACTGTATGACAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAG... |
Task1_train_20234 | Chromosome 14 houses a mutation in gene LOC126862021, CALM1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984| calmodulin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | CAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTG... | CAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTG... |
Task1_train_20235 | A mutation found in LOC126862021, CALM1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984| calmodulin 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Long QT syndrome 14 | CAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTG... | CAGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTG... |
Task1_train_20236 | Here is a mutation in CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... |
Task1_train_20237 | This is a variant in CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome 14 | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... |
Task1_train_20238 | Here’s a variant in CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Long QT syndrome 14 | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... |
Task1_train_20239 | With a mutation on Chromosome 14 in gene CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... | AGTATAGAACATGATTTTTAAAAGATGAGTTGGGAGGAGAAAAGGATAAAAGAAAAAATAAAAGAAGCATTAAGAATAAACAATTCGGATCTAGATTTTACTTTCTAGATGATTGACTCGAGGGTGGTGTAGTAAAATCGCTTGTCTGGTCACAAACATTTGGCAGCAGAGCTTTTGATTAGGTTCTTTGACAAAGCCTTCAGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGG... |
Task1_train_20240 | Given a variant located on Chromosome 14 and affecting CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Long QT syndrome 14 | AGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAA... | AGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAA... |
Task1_train_20241 | The gene CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Long QT syndrome 14 | AGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAA... | AGCACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAA... |
Task1_train_20242 | A genomic change on Chromosome 14 affects CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Long QT syndrome 14 | CACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATT... | CACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATT... |
Task1_train_20243 | Here’s a variant in CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | CACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATT... | CACGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATT... |
Task1_train_20244 | The gene CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 4 | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... |
Task1_train_20245 | Chromosome 14 houses a mutation in gene CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Long QT syndrome 14 | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... |
Task1_train_20246 | Consider a variant on Chromosome 14 in gene CALM1, LOC126862021 (calmodulin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984). Determine its clinical classification and disease relevance. | Pathogenic; Long QT syndrome 14 | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... | CGTTAGAGTGGTTTTCACTAATAGTGTTTTGGAAAGAAAAGGTTGTCCATAGTTCTCTAGTTTGCTAAGATGATCAGCTACCCAGGAACGTGGAGTAACTTCCTCTTGTTTGTGGGAGCCCCGGGAATCTGTGCCTGGGGAGGGGAGAAGTCTGTTAGGCTCTTGGATTGTGTGGAAGAAGGAGAAGTTGTGCCAGGCTACAGAATCCTGTGTTTGCACTGAGAAAACAGGATGGTACCTGACCTTCTCTGCATGGCTGTGAGATAGCTTAAAATAATTTCTTTTGTTTTTGATGAATATGAACAATATCTTAAAATTTT... |
Task1_train_20247 | Consider this mutation in GPR68 (G protein-coupled receptor 68) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Amelogenesis imperfecta, hypomaturation type, IIa6 | GAGTTGCATGGGCTCTTCTTGGCTGTGTGGCCATTTCTGCCGCCTTCAAACTTGGTCACTTCCTCCTCTAGGAAGGGGAAGAGAACCTCCCCAAGTCATCGGACACCCTCCACAAGGATCTGAGCAGGGGCTGTGCAGTCAAAGCCAAGTGTAGCCCTGGGACCACTGTGAGCACCCTTCCCTGGGGCACCTCCAGCCTGGGCTGTTGCCTCTGGGCATCCCCGATGAAAGGGCTAAGAGACACAGCACAAAGGATCAACCTCTTCAAGGCTGGGGGGAAGAGGGGAAGGGAGACTGAGGAAGGGGTTCTGCCTGGGCCT... | GAGTTGCATGGGCTCTTCTTGGCTGTGTGGCCATTTCTGCCGCCTTCAAACTTGGTCACTTCCTCCTCTAGGAAGGGGAAGAGAACCTCCCCAAGTCATCGGACACCCTCCACAAGGATCTGAGCAGGGGCTGTGCAGTCAAAGCCAAGTGTAGCCCTGGGACCACTGTGAGCACCCTTCCCTGGGGCACCTCCAGCCTGGGCTGTTGCCTCTGGGCATCCCCGATGAAAGGGCTAAGAGACACAGCACAAAGGATCAACCTCTTCAAGGCTGGGGGGAAGAGGGGAAGGGAGACTGAGGAAGGGGTTCTGCCTGGGCCT... |
Task1_train_20248 | Given this variant in gene GPR68 (G protein-coupled receptor 68) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Amelogenesis imperfecta | GAGTTGCATGGGCTCTTCTTGGCTGTGTGGCCATTTCTGCCGCCTTCAAACTTGGTCACTTCCTCCTCTAGGAAGGGGAAGAGAACCTCCCCAAGTCATCGGACACCCTCCACAAGGATCTGAGCAGGGGCTGTGCAGTCAAAGCCAAGTGTAGCCCTGGGACCACTGTGAGCACCCTTCCCTGGGGCACCTCCAGCCTGGGCTGTTGCCTCTGGGCATCCCCGATGAAAGGGCTAAGAGACACAGCACAAAGGATCAACCTCTTCAAGGCTGGGGGGAAGAGGGGAAGGGAGACTGAGGAAGGGGTTCTGCCTGGGCCT... | GAGTTGCATGGGCTCTTCTTGGCTGTGTGGCCATTTCTGCCGCCTTCAAACTTGGTCACTTCCTCCTCTAGGAAGGGGAAGAGAACCTCCCCAAGTCATCGGACACCCTCCACAAGGATCTGAGCAGGGGCTGTGCAGTCAAAGCCAAGTGTAGCCCTGGGACCACTGTGAGCACCCTTCCCTGGGGCACCTCCAGCCTGGGCTGTTGCCTCTGGGCATCCCCGATGAAAGGGCTAAGAGACACAGCACAAAGGATCAACCTCTTCAAGGCTGGGGGGAAGAGGGGAAGGGAGACTGAGGAAGGGGTTCTGCCTGGGCCT... |
Task1_train_20249 | A variant was discovered on Chromosome 14, affecting FBLN5 (fibulin 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, demyelinating, IIA 1H | TGAGCTGAAATCTGAAAGATGGGGCAGGACTGGCTATGTGGAAATGAAAGGAATGCCTTCCATATGGCCGGAAGTATGTGCACACAAGAAGGGAGGCTGGCCATTCCTGGGCACGGGTAAAGGCATGAGCAAGTCCTGTTCAGACTGGCAGGAGCACAGGACACCTGAACTGGACAAGGAGCTGGAAGGGGCTGCCGGAGTCTGACTGGACTGGAGCCTGGAGTGAGGGAGTCACGGAGCATTGTCAGCGTCATGCCAGAGACTCCACCAGTAACTCCAGCTCAGTGCTGCAAGCTGAAATGGGTCAGCTCCCCAGCCAC... | TGAGCTGAAATCTGAAAGATGGGGCAGGACTGGCTATGTGGAAATGAAAGGAATGCCTTCCATATGGCCGGAAGTATGTGCACACAAGAAGGGAGGCTGGCCATTCCTGGGCACGGGTAAAGGCATGAGCAAGTCCTGTTCAGACTGGCAGGAGCACAGGACACCTGAACTGGACAAGGAGCTGGAAGGGGCTGCCGGAGTCTGACTGGACTGGAGCCTGGAGTGAGGGAGTCACGGAGCATTGTCAGCGTCATGCCAGAGACTCCACCAGTAACTCCAGCTCAGTGCTGCAAGCTGAAATGGGTCAGCTCCCCAGCCAC... |
Task1_train_20250 | Given a variant located on Chromosome 14 and affecting FBLN5 (fibulin 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cutis laxa, autosomal dominant | GTCACACCAAGTCTTCAGGAGGGTGTGCATCATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGC... | GTCACACCAAGTCTTCAGGAGGGTGTGCATCATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGC... |
Task1_train_20251 | Chromosome 14 houses a mutation in gene FBLN5 (fibulin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cutis laxa, autosomal recessive, type 1A | GTCACACCAAGTCTTCAGGAGGGTGTGCATCATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGC... | GTCACACCAAGTCTTCAGGAGGGTGTGCATCATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGC... |
Task1_train_20252 | A variant has been detected on Chromosome 14 in FBLN5 (fibulin 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cutis laxa, autosomal dominant | CATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTC... | CATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTC... |
Task1_train_20253 | Here is a genetic alteration in FBLN5 (fibulin 5) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cutis laxa, autosomal recessive, type 1A | CATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTC... | CATGGAGAACATGGAGGACAAGTTGGCCATTTGGGGCAAAATGAGTCAACTGAAAATCTTGGCCAAATCGGCATGGATGTAAGCTTCTCAAGAAGCCAAAAGTCTCTTACACCTACACTTAGGGAAGATAAATTAACATGTAATGACTAAAACTCCACTGTGTCCAAAAAAAACCTCCTTGAAAGAGAAAAGTCCAGAGTGTTGTGGGGTAGGCAGGAATATTTGTCTCTCAGTGGCCCGCCTACCTTGGATCCTCCCTGGGACATGGGAAGCAGCAGCTTCCAGCCAGCCTGGAACCAGCCTGGAGCTGGGCCACCCTC... |
Task1_train_20254 | Gene FBLN5 (fibulin 5) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Macular degeneration, age-related, 3 | GGCCACTCGGAGGTGAATGAACTCATTCCACCCCCTCACCGCTCTCAGCTGCTTCTGAAGAGCAGGGCGACCAAAATGATTCTGCCCCCCTGGGGTTCTCACTGCCCTTTCCTGCCAGCCCTTTCCAAATGCCCTTCTGAATCTGCTGAGGGCACACAGGGCCCCACTCCAACCTGTTGGACAAGAAGTCTGGGCCCCTGGTTTTACTCTCAGATCTGCTACCACGTGGCTGTGTGACTTTGGCCAAGTTGCTTAACCTTTTTGAGCCTTTATTTCCTCAGTGAAGCAGAGCCACAAACACCTGCCTGCTGACCTCAAGA... | GGCCACTCGGAGGTGAATGAACTCATTCCACCCCCTCACCGCTCTCAGCTGCTTCTGAAGAGCAGGGCGACCAAAATGATTCTGCCCCCCTGGGGTTCTCACTGCCCTTTCCTGCCAGCCCTTTCCAAATGCCCTTCTGAATCTGCTGAGGGCACACAGGGCCCCACTCCAACCTGTTGGACAAGAAGTCTGGGCCCCTGGTTTTACTCTCAGATCTGCTACCACGTGGCTGTGTGACTTTGGCCAAGTTGCTTAACCTTTTTGAGCCTTTATTTCCTCAGTGAAGCAGAGCCACAAACACCTGCCTGCTGACCTCAAGA... |
Task1_train_20255 | Given a variant located on Chromosome 14 and affecting FBLN5 (fibulin 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Age-related macular degeneration | GGCCACTCGGAGGTGAATGAACTCATTCCACCCCCTCACCGCTCTCAGCTGCTTCTGAAGAGCAGGGCGACCAAAATGATTCTGCCCCCCTGGGGTTCTCACTGCCCTTTCCTGCCAGCCCTTTCCAAATGCCCTTCTGAATCTGCTGAGGGCACACAGGGCCCCACTCCAACCTGTTGGACAAGAAGTCTGGGCCCCTGGTTTTACTCTCAGATCTGCTACCACGTGGCTGTGTGACTTTGGCCAAGTTGCTTAACCTTTTTGAGCCTTTATTTCCTCAGTGAAGCAGAGCCACAAACACCTGCCTGCTGACCTCAAGA... | GGCCACTCGGAGGTGAATGAACTCATTCCACCCCCTCACCGCTCTCAGCTGCTTCTGAAGAGCAGGGCGACCAAAATGATTCTGCCCCCCTGGGGTTCTCACTGCCCTTTCCTGCCAGCCCTTTCCAAATGCCCTTCTGAATCTGCTGAGGGCACACAGGGCCCCACTCCAACCTGTTGGACAAGAAGTCTGGGCCCCTGGTTTTACTCTCAGATCTGCTACCACGTGGCTGTGTGACTTTGGCCAAGTTGCTTAACCTTTTTGAGCCTTTATTTCCTCAGTGAAGCAGAGCCACAAACACCTGCCTGCTGACCTCAAGA... |
Task1_train_20256 | Mutation context: Chromosome 14, Gene FBLN5 (fibulin 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Macular degeneration, age-related, 3 | AAGAACTCAGGACTTATGAATGCATAATGCTGAACTTTTTGGAAATGGATGGGCCTGGTGCCAGTCCTCACTAGGGCTCCTAGATTGTATTCTCCTTACAAAAGGGCCATTATGAAAGTTCCGCATCTCCCGTGTGACAGGTTCAGAGCCATAAATGGCATGACGTCAGAGGGACCAGGGGAGGAATAGGTTTCCCAGCCATGTCCTCATTGTCAAGGGCACTGGGACCCTGGAAAGAGGTTTAGGGGAAGGAGGGAGACACTTTGGAGAAAGCCGCAGCAGTTCCCAGCCGTTCTGCAAAGGAGGCCGCTGAGCTTGCC... | AAGAACTCAGGACTTATGAATGCATAATGCTGAACTTTTTGGAAATGGATGGGCCTGGTGCCAGTCCTCACTAGGGCTCCTAGATTGTATTCTCCTTACAAAAGGGCCATTATGAAAGTTCCGCATCTCCCGTGTGACAGGTTCAGAGCCATAAATGGCATGACGTCAGAGGGACCAGGGGAGGAATAGGTTTCCCAGCCATGTCCTCATTGTCAAGGGCACTGGGACCCTGGAAAGAGGTTTAGGGGAAGGAGGGAGACACTTTGGAGAAAGCCGCAGCAGTTCCCAGCCGTTCTGCAAAGGAGGCCGCTGAGCTTGCC... |
Task1_train_20257 | Assess the clinical impact of this variant on gene FBLN5 (fibulin 5), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Age-related macular degeneration | AAGAACTCAGGACTTATGAATGCATAATGCTGAACTTTTTGGAAATGGATGGGCCTGGTGCCAGTCCTCACTAGGGCTCCTAGATTGTATTCTCCTTACAAAAGGGCCATTATGAAAGTTCCGCATCTCCCGTGTGACAGGTTCAGAGCCATAAATGGCATGACGTCAGAGGGACCAGGGGAGGAATAGGTTTCCCAGCCATGTCCTCATTGTCAAGGGCACTGGGACCCTGGAAAGAGGTTTAGGGGAAGGAGGGAGACACTTTGGAGAAAGCCGCAGCAGTTCCCAGCCGTTCTGCAAAGGAGGCCGCTGAGCTTGCC... | AAGAACTCAGGACTTATGAATGCATAATGCTGAACTTTTTGGAAATGGATGGGCCTGGTGCCAGTCCTCACTAGGGCTCCTAGATTGTATTCTCCTTACAAAAGGGCCATTATGAAAGTTCCGCATCTCCCGTGTGACAGGTTCAGAGCCATAAATGGCATGACGTCAGAGGGACCAGGGGAGGAATAGGTTTCCCAGCCATGTCCTCATTGTCAAGGGCACTGGGACCCTGGAAAGAGGTTTAGGGGAAGGAGGGAGACACTTTGGAGAAAGCCGCAGCAGTTCCCAGCCGTTCTGCAAAGGAGGCCGCTGAGCTTGCC... |
Task1_train_20258 | A variant has been detected on Chromosome 14 in TRIP11 (thyroid hormone receptor interactor 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Odontochondrodysplasia 1 | GATTACAGGTGCACGCCACCACGCCCGGCTAATTTTTGCATTTTTAGCAGAGACGGGGTTTCACCATGTTGGTTAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAATACTAGCACTTTAGATAGATGATCATCATTACAAAAATTTAACAATTTAATCAATAGTCTGATGGTAACACTCACTTCTAACACCTCATGGTCAGAATTAGCCAACTGATAATACTTATTTTTCTTGCCATCAATGAATAGCACTTAATGAA... | GATTACAGGTGCACGCCACCACGCCCGGCTAATTTTTGCATTTTTAGCAGAGACGGGGTTTCACCATGTTGGTTAGGCTGGTCTCAAACTCCTGACCCTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAATACTAGCACTTTAGATAGATGATCATCATTACAAAAATTTAACAATTTAATCAATAGTCTGATGGTAACACTCACTTCTAACACCTCATGGTCAGAATTAGCCAACTGATAATACTTATTTTTCTTGCCATCAATGAATAGCACTTAATGAA... |
Task1_train_20259 | The gene SLC24A4 (solute carrier family 24 member 4) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A5 | ACATTTGCAGCTGGGAGGGTGGGTTGTTCAGGGCAGGTGCTTCCCCGTGACTTTCCCCCTGCTGGGCCCAGCTTGGGGAGCTCAGTGTCCTTGCAGAATTGGGACTGGCTGCTTTGGACCTGGGCCCCCCAAGCGGTGACCTGGCAAACGTGTGCAAAGGCCTCCCCTTACCCCACATCCCCTCAGATGGAGCCATGTGCTCGCCTCCATCCAGACGCTTGTCAGTGAGGGAATGAAGCCAGGGGAGGAGGGTGAGGAACAGAGTCCAGAAATGCCCACTGGGATGATCGTGTGGGAGGGTCCACCCAGGGCCCCTGTGG... | ACATTTGCAGCTGGGAGGGTGGGTTGTTCAGGGCAGGTGCTTCCCCGTGACTTTCCCCCTGCTGGGCCCAGCTTGGGGAGCTCAGTGTCCTTGCAGAATTGGGACTGGCTGCTTTGGACCTGGGCCCCCCAAGCGGTGACCTGGCAAACGTGTGCAAAGGCCTCCCCTTACCCCACATCCCCTCAGATGGAGCCATGTGCTCGCCTCCATCCAGACGCTTGTCAGTGAGGGAATGAAGCCAGGGGAGGAGGGTGAGGAACAGAGTCCAGAAATGCCCACTGGGATGATCGTGTGGGAGGGTCCACCCAGGGCCCCTGTGG... |
Task1_train_20260 | The gene SLC24A4 (solute carrier family 24 member 4) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A5 | CACTTGAACATTCAAGTCCCCCAGAACCTCATTCATGTCCCTCCTGACCACTCCCTTTCACACCCTACTCCCAGCCCAAAACAGTTTGGTTAGACTGTGTCAGAAGCATCCAGTCGTTAGCCGCTTATTGAAACCAACAGCCAATTAAGGGTGATTACCTGGTAACAGTCAGATGATCATGAGCGTTGCTGAATAATACACAGTTTGGCCACTGAGTAGTGTGATTTCTTATAGTGCCCTTCTTGTGTCGAGTTAGTGTTGTGTACATTATACCCAATTTCAACCTAATCTTACTTCATCTTGTTCAAGCATTGTGATTT... | CACTTGAACATTCAAGTCCCCCAGAACCTCATTCATGTCCCTCCTGACCACTCCCTTTCACACCCTACTCCCAGCCCAAAACAGTTTGGTTAGACTGTGTCAGAAGCATCCAGTCGTTAGCCGCTTATTGAAACCAACAGCCAATTAAGGGTGATTACCTGGTAACAGTCAGATGATCATGAGCGTTGCTGAATAATACACAGTTTGGCCACTGAGTAGTGTGATTTCTTATAGTGCCCTTCTTGTGTCGAGTTAGTGTTGTGTACATTATACCCAATTTCAACCTAATCTTACTTCATCTTGTTCAAGCATTGTGATTT... |
Task1_train_20261 | A mutation found in LYSET (lysosomal enzyme trafficking factor) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dysostosis multiplex, Ain-Naz type | GCCCGAAATAATAGACTTAAGTTCTAAATATGCCAGACCACAGGCGACCACCGAAATTCAAAGTAATCCTCCGCGGTACCCCAGAGAAATCTTGTCAACGTGCCGAGGTCCAGCAGCCTGCAAGACAGAGCAGACAGGTTAGCTAAAGGTGCCAACGTCCAGGGCAAGCGTGCAGGCCCCAAGCCCCGCGCGCCCTGCCCCCAGCGGCGACGCCAGGGCAGCCGCACTGCGGCGCGCGCCCCTCACCCCTCCCAGCCCTGGTGCCTGGCGGATGTCGGGCCTGCAGGGCCGCGTCGGGCCCGCTTCCACTCACCGTGATC... | GCCCGAAATAATAGACTTAAGTTCTAAATATGCCAGACCACAGGCGACCACCGAAATTCAAAGTAATCCTCCGCGGTACCCCAGAGAAATCTTGTCAACGTGCCGAGGTCCAGCAGCCTGCAAGACAGAGCAGACAGGTTAGCTAAAGGTGCCAACGTCCAGGGCAAGCGTGCAGGCCCCAAGCCCCGCGCGCCCTGCCCCCAGCGGCGACGCCAGGGCAGCCGCACTGCGGCGCGCGCCCCTCACCCCTCCCAGCCCTGGTGCCTGGCGGATGTCGGGCCTGCAGGGCCGCGTCGGGCCCGCTTCCACTCACCGTGATC... |
Task1_train_20262 | This alteration in SERPINA1 (serpin family A member 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Alpha-1-antitrypsin deficiency | TGTGGGCCACCAGCAACCCTTCTGGTTTAAGGAGGAATTACCTCTGCAGAAGTTTAGCGTGACCCTCGAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAA... | TGTGGGCCACCAGCAACCCTTCTGGTTTAAGGAGGAATTACCTCTGCAGAAGTTTAGCGTGACCCTCGAAGGGGAGAGTGTGGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAA... |
Task1_train_20263 | Gene SERPINA1 (serpin family A member 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Alpha-1-antitrypsin deficiency | GGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGG... | GGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGG... |
Task1_train_20264 | Assess the clinical impact of this variant on gene SERPINA1 (serpin family A member 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | GGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGG... | GGTGAGGTGGTATGGTTCAGAGGAACAAGTAGCCCATCAAGCCAGCTTTGCCACTTATGAGCTGTGTGACATTGTGGGAGACCAGTAGCCTCTCTGAGCCTCAGTTTCCTCAGATTTGGAGTTTAAGAGCACAGCAGATATACTCACACATCGCAGTGCTGCTACAGTGAGTAAATGAGAAACAGCCAGGGGAGGTACTTCATAGGGATGTCTGATTCACAGAAAGCTCATAAGTGCAAGAAATGTAGTTCTATTTATTCTCTGTTCTAATGGGTATAAACATTTTGTTATCTAACTTGAACATCATACCAACTCAAAGG... |
Task1_train_20265 | A mutation in SERPINA1 (serpin family A member 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alpha-1-antitrypsin deficiency | GTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGG... | GTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGG... |
Task1_train_20266 | A mutation on Chromosome 14 affecting SERPINA1 (serpin family A member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Alpha-1-antitrypsin deficiency | TCATCAGGCAGGAAGAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCT... | TCATCAGGCAGGAAGAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCT... |
Task1_train_20267 | Gene SERPINA1 (serpin family A member 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Alpha-1-antitrypsin deficiency | GAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTC... | GAAGATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTC... |
Task1_train_20268 | The gene SERPINA1 (serpin family A member 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alpha-1-antitrypsin deficiency | GATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTCATC... | GATGGCGGTGGCATTGCCCAGGTATTTCATCAGCAGCACCCAGCTGGACAGCTTCTTACAGTGCTGGATGTTAAACATGCCTAAACGCTTCATCATAGGCACCTTCACGGTGGTCACCTGGTCCACGTGGAAGTCCTCTTCCTCGGTGTCCTTGACTTCAAAGGGTCTCTCCCATTTGCCTGGAGAGAGGGGAAGGTGGGCATCACCAGGGGTGAGTGAAGGTTTGGAAGAGTGTAGCAGAATAAAGAAACCATGAGTCCCCTCCCTGAGAAGCCCTGAGCCCCCTTGACGACACACATCCCTCGAGGCTCAGCTTCATC... |
Task1_train_20269 | A mutation on Chromosome 14 affecting SERPINA3 (serpin family A member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; ANTICHYMOTRYPSIN BOCHUM 1 | AGAGGCATCCTCTGTGTCTGGGTTTTCACACCTGCAAAGGGTGGAGGTGCCCTGGGGCCTCTATGGTCATTTCTGCCTTGATACTTACAGATTCGGATTTGAGTCAGCTGTGCATCTGACCCTCAGGGAAGAGGTGCTGTCCCCTTGCCTGGAGCAGGGTGCAGCTCTCAGAACATGTGGCAGATGTGATTATTGCAGCAGGTCCCTCTGAGCAGAGGCCACAGGCCTCACCATGATTTCAGGGTCTCCATGGGGCTGCCTCGGGAGCTCCACTTCCCCAAAAGGACCCCTGGCCAAGTCGACAGATGGGCTGTGTCTCT... | AGAGGCATCCTCTGTGTCTGGGTTTTCACACCTGCAAAGGGTGGAGGTGCCCTGGGGCCTCTATGGTCATTTCTGCCTTGATACTTACAGATTCGGATTTGAGTCAGCTGTGCATCTGACCCTCAGGGAAGAGGTGCTGTCCCCTTGCCTGGAGCAGGGTGCAGCTCTCAGAACATGTGGCAGATGTGATTATTGCAGCAGGTCCCTCTGAGCAGAGGCCACAGGCCTCACCATGATTTCAGGGTCTCCATGGGGCTGCCTCGGGAGCTCCACTTCCCCAAAAGGACCCCTGGCCAAGTCGACAGATGGGCTGTGTCTCT... |
Task1_train_20270 | An alteration has been detected in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; DICER1-related tumor predisposition | TAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACC... | TAGTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACC... |
Task1_train_20271 | Here is a variant affecting DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; DICER1-related tumor predisposition | GTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTG... | GTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTG... |
Task1_train_20272 | A genomic change on Chromosome 14 affects DICER1 (dicer 1, ribonuclease III). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; DICER1-related tumor predisposition | GTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTG... | GTTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTG... |
Task1_train_20273 | Here is a genetic alteration in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; DICER1-related tumor predisposition | TTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGG... | TTTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGG... |
Task1_train_20274 | An alteration has been detected in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; DICER1-related tumor predisposition | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... |
Task1_train_20275 | Here is a genetic alteration in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; DICER1-related tumor predisposition | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... |
Task1_train_20276 | This alteration in DICER1 (dicer 1, ribonuclease III) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... | TTATCTAAATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGC... |
Task1_train_20277 | A variant on Chromosome 14 in gene DICER1 (dicer 1, ribonuclease III) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; DICER1-related tumor predisposition | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... |
Task1_train_20278 | Located on Chromosome 14, this mutation impacts DICER1 (dicer 1, ribonuclease III). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; DICER1-related tumor predisposition | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... | ATTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGAC... |
Task1_train_20279 | This genomic variant is located on Chromosome 14, within the DICER1 (dicer 1, ribonuclease III) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; DICER1-related tumor predisposition | TTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACT... | TTAATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACT... |
Task1_train_20280 | A mutation on Chromosome 14 affecting DICER1 (dicer 1, ribonuclease III) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; DICER1-related tumor predisposition | AATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTT... | AATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTT... |
Task1_train_20281 | Given a variant located on Chromosome 14 and affecting DICER1 (dicer 1, ribonuclease III), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; DICER1-related tumor predisposition | ATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTA... | ATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTA... |
Task1_train_20282 | A genomic change on Chromosome 14 affects DICER1 (dicer 1, ribonuclease III). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; DICER1-related tumor predisposition | ATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTA... | ATGACCTAAATCACAGATGTATCAAAATTACGGCAGTTTATCGCAAACGTTAAACTTTCACGGCATTAACAGCACAGCTTTGGTAGGTGAAATATGCATGCAACATTATGAAAAGTATAGTAAGAAATTTATGTGAGGAGACTAAGGGTAAAGGTGCTGTGTTTTGCTTCTTAAATAAGTAACCAATCAATTATAAAATCTGCAGCATATTTTAGGTGTGATATGTCTAAGGTTTATTTTGTTAGAGCAACAGCCTAGAAGGCAAAATTATTTGCCATAAACATTTCCATCAGTGGGAACTACCTGGCAGGAGGACTTTA... |
Task1_train_20283 | A genetic alteration is present in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DICER1-related tumor predisposition | TTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTT... | TTATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTT... |
Task1_train_20284 | This sequence variant lies in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; DICER1-related tumor predisposition | TATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTT... | TATTAAACATCCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTT... |
Task1_train_20285 | This sequence variant lies in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; DICER1-related tumor predisposition | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... |
Task1_train_20286 | The following genetic variant occurs in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; DICER1-related tumor predisposition | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... |
Task1_train_20287 | This is a variant in DICER1 (dicer 1, ribonuclease III), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Primary intracranial sarcoma, DICER1-mutant | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... | CCTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCA... |
Task1_train_20288 | This gene mutation involves DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; DICER1-related tumor predisposition | CTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAA... | CTAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAA... |
Task1_train_20289 | A change on Chromosome 14 affects gene DICER1 (dicer 1, ribonuclease III). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; DICER1-related tumor predisposition | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... |
Task1_train_20290 | The gene DICER1 (dicer 1, ribonuclease III), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; DICER1-related tumor predisposition | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... |
Task1_train_20291 | A variant on Chromosome 14 in gene DICER1 (dicer 1, ribonuclease III) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; DICER1-related tumor predisposition | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... |
Task1_train_20292 | The gene DICER1 (dicer 1, ribonuclease III) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neoplasm | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... | TAACCAAAAACTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAAC... |
Task1_train_20293 | This alteration occurs within gene DICER1 (dicer 1, ribonuclease III) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; DICER1-related tumor predisposition | CTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATT... | CTACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATT... |
Task1_train_20294 | This variant lies on Chromosome 14 and affects the gene DICER1 (dicer 1, ribonuclease III). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; DICER1-related tumor predisposition | TACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTT... | TACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTT... |
Task1_train_20295 | A variant affecting Chromosome 14, within the gene DICER1 (dicer 1, ribonuclease III), has been observed. Determine if it's benign or associated with disease. | Pathogenic; DICER1-related tumor predisposition | ACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTG... | ACTTAATTACTCGGCCATAAAGAAGCGTTTAAATCAATCAGCCACGTGTTGACTAGCGTGTGGCCCCTGAGCATCACGATACCCATCAATACACGGAAAGTCAGCCACAATATATTATACGTGAAAAGAACAGGTGACAGTATCCTATACATAACAGAATTCCATTTTACATTTTAGATATGTTTATATCTATACACATCCACAATTCCTCCCAAAATGTTAATATTGGTTATTTCCGAGGTAGCATAATCAGGCAAATTTAACTAATTTTCTTCTTATTTACTTGTACTAACTTTTCTAAAATCAACACAAATCATTTG... |
Task1_train_20296 | This sequence change occurs on Chromosome 14, altering DICER1 (dicer 1, ribonuclease III). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; DICER1-related tumor predisposition | CACACCCCTGACCTCCTGCTGTCCCTTTAGACCACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGG... | CACACCCCTGACCTCCTGCTGTCCCTTTAGACCACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGG... |
Task1_train_20297 | Here is a genetic alteration in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; DICER1-related tumor predisposition | GGTTCAATGAAAAAGAACTGCATCTGTAGTTAAAAGGTACAAAAATGCTGGTAAAAGAGACAGTTATATTTAATAGAGAATCAGAAAATAAAGAATGTATCTATTAATTAAACAGGATGCCAGGCAGTACTATGCTTTTCTTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTCTCGGATTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAAATGCTGGGATCACAGGTGTGAACCACCACACCCAGCCAATACTATGCTTTTAGAAACACTTATCATTAACGACTTTATCACATGAAACTAG... | GGTTCAATGAAAAAGAACTGCATCTGTAGTTAAAAGGTACAAAAATGCTGGTAAAAGAGACAGTTATATTTAATAGAGAATCAGAAAATAAAGAATGTATCTATTAATTAAACAGGATGCCAGGCAGTACTATGCTTTTCTTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTCTCGGATTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAAATGCTGGGATCACAGGTGTGAACCACCACACCCAGCCAATACTATGCTTTTAGAAACACTTATCATTAACGACTTTATCACATGAAACTAG... |
Task1_train_20298 | The following genetic variant occurs in DICER1 (dicer 1, ribonuclease III) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | GGTTCAATGAAAAAGAACTGCATCTGTAGTTAAAAGGTACAAAAATGCTGGTAAAAGAGACAGTTATATTTAATAGAGAATCAGAAAATAAAGAATGTATCTATTAATTAAACAGGATGCCAGGCAGTACTATGCTTTTCTTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTCTCGGATTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAAATGCTGGGATCACAGGTGTGAACCACCACACCCAGCCAATACTATGCTTTTAGAAACACTTATCATTAACGACTTTATCACATGAAACTAG... | GGTTCAATGAAAAAGAACTGCATCTGTAGTTAAAAGGTACAAAAATGCTGGTAAAAGAGACAGTTATATTTAATAGAGAATCAGAAAATAAAGAATGTATCTATTAATTAAACAGGATGCCAGGCAGTACTATGCTTTTCTTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTCTCGGATTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAAATGCTGGGATCACAGGTGTGAACCACCACACCCAGCCAATACTATGCTTTTAGAAACACTTATCATTAACGACTTTATCACATGAAACTAG... |
Task1_train_20299 | Consider a variant on Chromosome 14 in gene DICER1 (dicer 1, ribonuclease III). Determine its clinical classification and disease relevance. | Pathogenic; DICER1-related tumor predisposition | CATTTTATGAAAGTTGATCACAATTCATCTGATCCTTAAAGTCAATAGGAAGTAACCGACTGATTCTGGATAAACCTTTTCAGGCTAATATTCCTGCAATAAAAACTGGCACATCTTTACCTAAAAATACATGCAGAAAACAGGAGGAAGGCGGAAAATACACCCCCATTTCTTCTCTCCAAGCCCCAGAAAATTTATTTAATCCTTATATAATCCTAAATGGAGACGGGGAGTATGTCCATAACTAGGCTTACAACTGCGCCAGCATTAAACTTTTTTGACTCCCAAAATGCTTTTTCCCTGCCCTAAGAAATAATCCC... | CATTTTATGAAAGTTGATCACAATTCATCTGATCCTTAAAGTCAATAGGAAGTAACCGACTGATTCTGGATAAACCTTTTCAGGCTAATATTCCTGCAATAAAAACTGGCACATCTTTACCTAAAAATACATGCAGAAAACAGGAGGAAGGCGGAAAATACACCCCCATTTCTTCTCTCCAAGCCCCAGAAAATTTATTTAATCCTTATATAATCCTAAATGGAGACGGGGAGTATGTCCATAACTAGGCTTACAACTGCGCCAGCATTAAACTTTTTTGACTCCCAAAATGCTTTTTCCCTGCCCTAAGAAATAATCCC... |
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