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_22000 | Located on Chromosome 16, this mutation impacts HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methemoglobinemia, alpha type | AAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGT... | AAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGT... |
Task1_train_22001 | Consider a variant on Chromosome 16 in gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Determine its clinical classification and disease relevance. | Pathogenic; alpha Thalassemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22002 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hemoglobin H disease | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22003 | Consider this mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; alpha Thalassemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22004 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Heinz body anemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22005 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Methemoglobinemia, alpha type | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22006 | This sequence variant lies in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Erythrocytosis, familial, 7 | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTT... |
Task1_train_22007 | The following genetic variant occurs in CAPN15 (calpain 15) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GTCACGCGCAGCCTGTGTGCAGAGGGCGCCTACCAGGTGCGGCTGTGCAAGGACGGCACGTGGACCACGGTGCTGGTGGACGACATGCTGCCCTGTGATGAGGCCGGCTGCCTCCTCTTCTCACAGGTGGGGCGGCCTGCAGGGTGGGCACGGGCGGCAGGGGCAGCCTCTGACCCCAGCCCCGAAAACAAGGCCGGCTGCTTCCTCTTCTCCCAGGGCGGGTAGTGTGGGGGGCGGGCGGGGGTGGCCTCTGACCCGGCCCTCTGCAGGCGCAGCGGAAGCAGCTGTGGGTGGCCCTCATCGAGAAGGCGCTGGCCAAG... | GTCACGCGCAGCCTGTGTGCAGAGGGCGCCTACCAGGTGCGGCTGTGCAAGGACGGCACGTGGACCACGGTGCTGGTGGACGACATGCTGCCCTGTGATGAGGCCGGCTGCCTCCTCTTCTCACAGGTGGGGCGGCCTGCAGGGTGGGCACGGGCGGCAGGGGCAGCCTCTGACCCCAGCCCCGAAAACAAGGCCGGCTGCTTCCTCTTCTCCCAGGGCGGGTAGTGTGGGGGGCGGGCGGGGGTGGCCTCTGACCCGGCCCTCTGCAGGCGCAGCGGAAGCAGCTGTGGGTGGCCCTCATCGAGAAGGCGCTGGCCAAG... |
Task1_train_22008 | Gene CAPN15 (calpain 15) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACC... | GCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACC... |
Task1_train_22009 | A variant affecting Chromosome 16, within the gene CAPN15 (calpain 15), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGA... | GTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGA... |
Task1_train_22010 | Here’s a variant in CAPN15 (calpain 15) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | CCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGG... | CCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGG... |
Task1_train_22011 | The gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spinocerebellar ataxia 48 | CCTGCCGTCCAGTGAGACCCGGAGGCCTGAGGTTCTGTGGCAGGTGAGCAGGCCTGGGCCATGGCCAAGTTTACTCGGCCTGGGTTCCATGCTTCTTGGCTGGCCTAGCATCCTCGTGGGTGGCCAGGCTGGGGCCAAGGTTGGGCAGCAGGTCTGGGCACAGCCTCTGCCCCACAGCCCAGGTCCACAGTGCTGTCTCCACTAGGTAGGGAGTCCACTGTCCTGAGGCACTGGCTAGGGAGGGGCACACGGACTCAGGCCCAGGGGCACGGGCCACCCCAACCTGCCCACACACAGTTCATTCCCCTTGGCTCAGAGCT... | CCTGCCGTCCAGTGAGACCCGGAGGCCTGAGGTTCTGTGGCAGGTGAGCAGGCCTGGGCCATGGCCAAGTTTACTCGGCCTGGGTTCCATGCTTCTTGGCTGGCCTAGCATCCTCGTGGGTGGCCAGGCTGGGGCCAAGGTTGGGCAGCAGGTCTGGGCACAGCCTCTGCCCCACAGCCCAGGTCCACAGTGCTGTCTCCACTAGGTAGGGAGTCCACTGTCCTGAGGCACTGGCTAGGGAGGGGCACACGGACTCAGGCCCAGGGGCACGGGCCACCCCAACCTGCCCACACACAGTTCATTCCCCTTGGCTCAGAGCT... |
Task1_train_22012 | A variant was discovered on Chromosome 16, affecting STUB1 (STIP1 homology and U-box containing protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spinocerebellar ataxia 48 | GGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAA... | GGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAA... |
Task1_train_22013 | The gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | ATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGC... | ATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGC... |
Task1_train_22014 | The variant affects gene STUB1 (STIP1 homology and U-box containing protein 1), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | TGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCG... | TGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCG... |
Task1_train_22015 | The following genetic variant occurs in STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGC... | GCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGC... |
Task1_train_22016 | Here is a genetic alteration in STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | CGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGT... | CGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGT... |
Task1_train_22017 | Gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCG... | GCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCG... |
Task1_train_22018 | This variant affects gene STUB1 (STIP1 homology and U-box containing protein 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | CAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGG... | CAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGG... |
Task1_train_22019 | Here’s a variant in JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spinocerebellar ataxia 48 | GCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCT... | GCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCT... |
Task1_train_22020 | This alteration occurs within gene JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | AAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGC... | AAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGC... |
Task1_train_22021 | This is a variant in JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Spinocerebellar ataxia 48 | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGC... | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGC... |
Task1_train_22022 | Here is a variant affecting JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGC... | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGC... |
Task1_train_22023 | Consider a variant on Chromosome 16 in gene CACNA1H (calcium voltage-gated channel subunit alpha1 H). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTGATGGGGGGCCGGGCAGGCAGGCGCAGGCTCTGAGAAGCCGCCGCCTCATCCCACAGAGCTGCTGCCTCCGCCTGCATAAAGTGCTGGAGCCCTACAAGCCCCAGTGGTGCCGGAGCCGCGAGGCCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGG... | CTGATGGGGGGCCGGGCAGGCAGGCGCAGGCTCTGAGAAGCCGCCGCCTCATCCCACAGAGCTGCTGCCTCCGCCTGCATAAAGTGCTGGAGCCCTACAAGCCCCAGTGGTGCCGGAGCCGCGAGGCCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGG... |
Task1_train_22024 | The gene CLCN7 (chloride voltage-gated channel 7), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CAGGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGT... | CAGGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGT... |
Task1_train_22025 | This alteration occurs within gene CLCN7 (chloride voltage-gated channel 7) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive osteopetrosis 4 | GGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGG... | GGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGG... |
Task1_train_22026 | This variant affects the gene CLCN7 (chloride voltage-gated channel 7) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive osteopetrosis 4 | ACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGAC... | ACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGAC... |
Task1_train_22027 | Given a variant located on Chromosome 16 and affecting CLCN7 (chloride voltage-gated channel 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCC... | CCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCC... |
Task1_train_22028 | Consider this mutation in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant osteopetrosis 2 | GGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCC... | GGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCC... |
Task1_train_22029 | Gene CLCN7 (chloride voltage-gated channel 7), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant osteopetrosis 2 | ACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCC... | ACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCC... |
Task1_train_22030 | Given a variant located on Chromosome 16 and affecting CLCN7 (chloride voltage-gated channel 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive osteopetrosis 4 | CACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCG... | CACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCG... |
Task1_train_22031 | This alteration in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant osteopetrosis 2 | GCATACACAGCCTTTCTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAG... | GCATACACAGCCTTTCTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAG... |
Task1_train_22032 | This alteration occurs within gene CLCN7 (chloride voltage-gated channel 7) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACAT... | CTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACAT... |
Task1_train_22033 | A change on Chromosome 16 affects gene CLCN7 (chloride voltage-gated channel 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACC... | CTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACC... |
Task1_train_22034 | A mutation found in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGA... | GTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGA... |
Task1_train_22035 | Given this context: Chromosome 16, gene CLCN7 (chloride voltage-gated channel 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive osteopetrosis 4 | AGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCA... | AGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCA... |
Task1_train_22036 | Here is a genetic alteration in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAG... | AGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAG... |
Task1_train_22037 | The gene CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTC... | CCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTC... |
Task1_train_22038 | A variant was discovered on Chromosome 16, affecting CLCN7 (chloride voltage-gated channel 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; CLCN7-related disorder | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGC... | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGC... |
Task1_train_22039 | A variant has been detected on Chromosome 16 in CLCN7 (chloride voltage-gated channel 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant osteopetrosis 2 | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGC... | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGC... |
Task1_train_22040 | This sequence variant lies in TELO2 (telomere maintenance 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TELO2-related intellectual disability-neurodevelopmental disorder | GACTCTCTCTAGACGGGGGCCCGAGGGAGGCTGGGGTTAAGGGGGCCACCCCCTGCAGTTTGTCCGGCCGGGGCTGCAGGGCAGCCAGGTCGCTCTGGGTCGGTGGCCGTGGGTGTCAGCCTCTCTGCTGCCGGCTGCCTGGCCATGGAGGAGCCCTGTCTGCCTTCAGGCTGTGGAGGTGACGGCCTGTCCTCTTATCTGCTGAGAACCTGGGATCTCTCTGGGGCATTGGCCTTGGGGGAGGCCCAGCTCCTTCGAGAGGGGCCACGGCCCCTCAGCTTTGAGCACTCCCAGTGCTACCCTTGGCCTGAGGTGGAATC... | GACTCTCTCTAGACGGGGGCCCGAGGGAGGCTGGGGTTAAGGGGGCCACCCCCTGCAGTTTGTCCGGCCGGGGCTGCAGGGCAGCCAGGTCGCTCTGGGTCGGTGGCCGTGGGTGTCAGCCTCTCTGCTGCCGGCTGCCTGGCCATGGAGGAGCCCTGTCTGCCTTCAGGCTGTGGAGGTGACGGCCTGTCCTCTTATCTGCTGAGAACCTGGGATCTCTCTGGGGCATTGGCCTTGGGGGAGGCCCAGCTCCTTCGAGAGGGGCCACGGCCCCTCAGCTTTGAGCACTCCCAGTGCTACCCTTGGCCTGAGGTGGAATC... |
Task1_train_22041 | A mutation in IFT140 (intraflagellar transport 140), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 80 | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAG... | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAG... |
Task1_train_22042 | Gene IFT140 (intraflagellar transport 140) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Saldino-Mainzer syndrome | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAG... | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAG... |
Task1_train_22043 | Given this variant in gene IFT140 (intraflagellar transport 140) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Saldino-Mainzer syndrome | AATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA... | AATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA... |
Task1_train_22044 | This variant impacts the gene IFT140 (intraflagellar transport 140) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAG... | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAG... |
Task1_train_22045 | A variant was discovered on Chromosome 16, affecting IFT140 (intraflagellar transport 140). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAG... | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAG... |
Task1_train_22046 | Here is a mutation in IFT140, LOC126862260 (intraflagellar transport 140| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Saldino-Mainzer syndrome | AAAAGGCTAAGATGGTAAATTTTGTGTTCTGTGTGTTTTTACCCCCCACCATAGGTGAGTGCACCATTCCCTGTGTATGATCAGATGCCAGCGTGAAGGATGGCGAGTCTACACTTGCGGACCTCCTGGGTGTGCCGTATGTGAAACCTAGGGCAGGGGGCACCCACCGCAGCCTTCCTGGAGAACTCATAACCAAGCAAGCAGCCATTCCCACAGCCTCTGGGGACAGGAGACCTGAGCCGTGGTGCCTGCGTGGAGCCGAGCCCAGGCCCCGCTGGCCCCGTACCTTCCTGGCAGCCAGCAGCAGCTCTACCGCCCTC... | AAAAGGCTAAGATGGTAAATTTTGTGTTCTGTGTGTTTTTACCCCCCACCATAGGTGAGTGCACCATTCCCTGTGTATGATCAGATGCCAGCGTGAAGGATGGCGAGTCTACACTTGCGGACCTCCTGGGTGTGCCGTATGTGAAACCTAGGGCAGGGGGCACCCACCGCAGCCTTCCTGGAGAACTCATAACCAAGCAAGCAGCCATTCCCACAGCCTCTGGGGACAGGAGACCTGAGCCGTGGTGCCTGCGTGGAGCCGAGCCCAGGCCCCGCTGGCCCCGTACCTTCCTGGCAGCCAGCAGCAGCTCTACCGCCCTC... |
Task1_train_22047 | Here’s a variant in IFT140 (intraflagellar transport 140) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Saldino-Mainzer syndrome | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAA... | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAA... |
Task1_train_22048 | This alteration in IFT140 (intraflagellar transport 140) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cranioectodermal dysplasia | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAA... | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAA... |
Task1_train_22049 | Here is a genetic alteration in IFT140 (intraflagellar transport 140) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa 80 | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... |
Task1_train_22050 | Here’s a variant in IFT140 (intraflagellar transport 140) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Saldino-Mainzer syndrome | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... |
Task1_train_22051 | The gene IFT140 (intraflagellar transport 140) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Saldino-Mainzer syndrome | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCAC... |
Task1_train_22052 | With a mutation on Chromosome 16 in gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Saldino-Mainzer syndrome | GAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCTCTGGCCTCCAGAACTATGGGAGAATACATTTCCCACATCTTTG... | GAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCTCTGGCCTCCAGAACTATGGGAGAATACATTTCCCACATCTTTG... |
Task1_train_22053 | This gene mutation involves IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Saldino-Mainzer syndrome | TTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTC... | TTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTC... |
Task1_train_22054 | A change on Chromosome 16 affects gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 80 | CATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGT... | CATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGT... |
Task1_train_22055 | The variant affects gene LOC105371046, IFT140 (uncharacterized LOC105371046| intraflagellar transport 140), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Saldino-Mainzer syndrome | GATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATAT... | GATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATAT... |
Task1_train_22056 | Here is a mutation in IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Saldino-Mainzer syndrome | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22057 | A change on Chromosome 16 affects gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Joubert syndrome with Jeune asphyxiating thoracic dystrophy | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22058 | Here is a genetic alteration in IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Saldino-Mainzer syndrome | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22059 | Here is a variant affecting IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa 80 | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22060 | Assess the clinical impact of this variant on gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22061 | Consider a variant on Chromosome 16 in gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTC... |
Task1_train_22062 | Mutation context: Chromosome 16, Gene IGFALS (insulin like growth factor binding protein acid labile subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short stature due to primary acid-labile subunit deficiency | GGGCTCTGCTCCAGCCTCTCAGAGAAACAGAGGCCTGGGCTCGGTTCCCGGGCCCTGCAGGGGCAGGCCCAGGCAGCGTCAGCCGGAGAGCTTCTCCCCGACCAGCCCAGCCCCAGGATGTGTCGCACCAGCAGCTCTGCCTGGTTGGCCTGCAGTGCCGTGGTCTGCGTGCTCTGCAGCTGTGAGACGGGGGCGGCCTGGGCTCTCTTCCCATCCATGTTGCCTACCTGTGCCCCTGGCAGCCGCGTGTCCACACAGTTAGCGGAGCGCGGGACTTCTGCAGTCCTCAGGTGACCCCGGGCCTCCAGCACCCTGGGTCG... | GGGCTCTGCTCCAGCCTCTCAGAGAAACAGAGGCCTGGGCTCGGTTCCCGGGCCCTGCAGGGGCAGGCCCAGGCAGCGTCAGCCGGAGAGCTTCTCCCCGACCAGCCCAGCCCCAGGATGTGTCGCACCAGCAGCTCTGCCTGGTTGGCCTGCAGTGCCGTGGTCTGCGTGCTCTGCAGCTGTGAGACGGGGGCGGCCTGGGCTCTCTTCCCATCCATGTTGCCTACCTGTGCCCCTGGCAGCCGCGTGTCCACACAGTTAGCGGAGCGCGGGACTTCTGCAGTCCTCAGGTGACCCCGGGCCTCCAGCACCCTGGGTCG... |
Task1_train_22063 | A variant has been detected on Chromosome 16 in MEIOB (meiosis specific with OB-fold). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spermatogenic failure 22 | CAACCACTCCCACAAGAGTCCTCCTCTCAAGCTCTGCTTCGAAGGAATCTGCCCTAAGATGGTAAGCCTGTGAGTAGAAGGATACCTTGACATGAAAAAAGACAGATGTAATTTCCAAAGTTTATCTTTTCTCCTCATTCAGTTTTAACATGACAAAGTCAAATTTTTGTAAATCTAAGAATGAGAATCAAAGTACTAAAACCAAAGCCATTTATCATGTGACTCTGTATCAAAGTAAATTATGTCATAATCAAAGATGAATTTTGTAAGAGAAAATTAAACTCCTCATTTTTATTGAAATAGAAACAGAACACTTTTAG... | CAACCACTCCCACAAGAGTCCTCCTCTCAAGCTCTGCTTCGAAGGAATCTGCCCTAAGATGGTAAGCCTGTGAGTAGAAGGATACCTTGACATGAAAAAAGACAGATGTAATTTCCAAAGTTTATCTTTTCTCCTCATTCAGTTTTAACATGACAAAGTCAAATTTTTGTAAATCTAAGAATGAGAATCAAAGTACTAAAACCAAAGCCATTTATCATGTGACTCTGTATCAAAGTAAATTATGTCATAATCAAAGATGAATTTTGTAAGAGAAAATTAAACTCCTCATTTTTATTGAAATAGAAACAGAACACTTTTAG... |
Task1_train_22064 | This variant impacts the gene HS3ST6 (heparan sulfate-glucosamine 3-sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Angioedema, hereditary, 8 | AAGGAAGCGTCCACTGCGCACCTGGATTCCGGATGAGCCAAGGTGGTGGGTGCGGACCCGACTTTAATCCTGCCCCACCACTCCACAGCGAGGCCTGCAGCCTCACTTTCCTCATCCTGAACATGAGGACAGCCCTGCCCAGCCTCCCAGGGCTGAGAAGAGAGCCTGAGCATGGCCCCCAGCATCACTAGGGCTAAGCTGCATGTCGCTGGGCGGGCCCTACGCCTCTCCGAGCTCACAGGCTAGACCTGACCAGGCGCACTGCCCACCTCTGAGGGTGTATAAAGAATGAGTTTTGGGCCAGGTGTGGTGGCTCCTGC... | AAGGAAGCGTCCACTGCGCACCTGGATTCCGGATGAGCCAAGGTGGTGGGTGCGGACCCGACTTTAATCCTGCCCCACCACTCCACAGCGAGGCCTGCAGCCTCACTTTCCTCATCCTGAACATGAGGACAGCCCTGCCCAGCCTCCCAGGGCTGAGAAGAGAGCCTGAGCATGGCCCCCAGCATCACTAGGGCTAAGCTGCATGTCGCTGGGCGGGCCCTACGCCTCTCCGAGCTCACAGGCTAGACCTGACCAGGCGCACTGCCCACCTCTGAGGGTGTATAAAGAATGAGTTTTGGGCCAGGTGTGGTGGCTCCTGC... |
Task1_train_22065 | Mutation context: Chromosome 16, Gene RPL3L (ribosomal protein L3 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiomyopathy, dilated, 2D | TCTTTCTTTCTTTCTTTCTTTTGAGACGGAGTCTTACTCTGTTTCCAGGCTGGAGTGCAGTAGCGCGATCTCAGCTCACTGCAACCTCCAACTCGCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAATCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGAGGTTTCTCGATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGTTTATAGTTTAAAACA... | TCTTTCTTTCTTTCTTTCTTTTGAGACGGAGTCTTACTCTGTTTCCAGGCTGGAGTGCAGTAGCGCGATCTCAGCTCACTGCAACCTCCAACTCGCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAATCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGAGGTTTCTCGATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGTTTATAGTTTAAAACA... |
Task1_train_22066 | Consider this mutation in RPL3L (ribosomal protein L3 like) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiomyopathy, dilated, 2D | AATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTT... | AATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTT... |
Task1_train_22067 | This mutation occurs in RPL3L (ribosomal protein L3 like) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiomyopathy, dilated, 2D | TTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCA... | TTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCA... |
Task1_train_22068 | A variant was discovered in gene RPL3L (ribosomal protein L3 like), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiomyopathy, dilated, 2D | CGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCC... | CGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCC... |
Task1_train_22069 | A variant was discovered in gene RPL3L (ribosomal protein L3 like), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiomyopathy, dilated, 2D | CTGAGTGTGGACAATGACCCGAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTA... | CTGAGTGTGGACAATGACCCGAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTA... |
Task1_train_22070 | The gene LOC130058198, NDUFB10 (ATAC-STARR-seq lymphoblastoid active region 10241| NADH:ubiquinone oxidoreductase subunit B10), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 35 | CGGCGCCAGCGCGCAGACGCAGCCGCCCTCGGCGTCCTCTGTAGCGGGCGACCTAGGCCGCGGGACCCGGACGGAGGTAGAGGCCAGGGCAGCGCGTCCGGGAGCGGAGTCCGCGCCCGCCGCCGCCATGCCGGACAGCTGGGACAAGGATGTGTACCCTGAGCCCCCGCGCCGCACGCCGGTGCAGCCCAATCCCATCGTCTACATGATGAAAGCGTTCGACCTCATCGTGGACCGACCCGTGACCCTCGTGAGAGGTACGAAGCCCCAGCCCGGGGCTCCCTCGCCGGCCTCTGGGGACCCCTGGATCCCACACCCTG... | CGGCGCCAGCGCGCAGACGCAGCCGCCCTCGGCGTCCTCTGTAGCGGGCGACCTAGGCCGCGGGACCCGGACGGAGGTAGAGGCCAGGGCAGCGCGTCCGGGAGCGGAGTCCGCGCCCGCCGCCGCCATGCCGGACAGCTGGGACAAGGATGTGTACCCTGAGCCCCCGCGCCGCACGCCGGTGCAGCCCAATCCCATCGTCTACATGATGAAAGCGTTCGACCTCATCGTGGACCGACCCGTGACCCTCGTGAGAGGTACGAAGCCCCAGCCCGGGGCTCCCTCGCCGGCCTCTGGGGACCCCTGGATCCCACACCCTG... |
Task1_train_22071 | Given this variant in gene GFER (growth factor, augmenter of liver regeneration) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | GTGCGCCGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGG... | GTGCGCCGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGG... |
Task1_train_22072 | This mutation is located in gene GFER (growth factor, augmenter of liver regeneration) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCT... | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCT... |
Task1_train_22073 | With a mutation on Chromosome 16 in gene GFER (growth factor, augmenter of liver regeneration), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Inborn genetic diseases | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCT... | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCT... |
Task1_train_22074 | This variant impacts the gene NTHL1 (nth like DNA glycosylase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial adenomatous polyposis 3 | CACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTC... | CACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTC... |
Task1_train_22075 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCT... | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCT... |
Task1_train_22076 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tuberous sclerosis 2 | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCT... | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCT... |
Task1_train_22077 | This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTC... | AATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTC... |
Task1_train_22078 | The variant affects gene TSC2 (TSC complex subunit 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tuberous sclerosis 2 | CACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAA... | CACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAA... |
Task1_train_22079 | Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGG... | CTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGG... |
Task1_train_22080 | The gene TSC2 (TSC complex subunit 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tuberous sclerosis 2 | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTG... | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTG... |
Task1_train_22081 | A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Tuberous sclerosis syndrome | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTG... | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTG... |
Task1_train_22082 | An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tuberous sclerosis 2 | GCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGG... | GCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGG... |
Task1_train_22083 | Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Lymphangiomyomatosis | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... |
Task1_train_22084 | An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tuberous sclerosis 2 | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... |
Task1_train_22085 | A mutation on Chromosome 16 affecting TSC2 (TSC complex subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Isolated focal cortical dysplasia type II | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGG... |
Task1_train_22086 | A variant affecting Chromosome 16, within the gene TSC2 (TSC complex subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tuberous sclerosis 2 | TGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGG... | TGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGG... |
Task1_train_22087 | This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGG... | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGG... |
Task1_train_22088 | This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Tuberous sclerosis 2 | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGG... | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGG... |
Task1_train_22089 | A variant found in Chromosome 16 affects TSC2 (TSC complex subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tuberous sclerosis syndrome | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22090 | A genetic alteration is present in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22091 | The gene TSC2 (TSC complex subunit 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22092 | The gene TSC2 (TSC complex subunit 2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22093 | This alteration occurs within gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Lymphangiomyomatosis | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22094 | A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22095 | This sequence variant lies in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Isolated focal cortical dysplasia type II | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTC... |
Task1_train_22096 | This alteration occurs within gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Tuberous sclerosis 2 | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... |
Task1_train_22097 | This is a variant in TSC2 (TSC complex subunit 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... |
Task1_train_22098 | Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tuberous sclerosis 2 | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... |
Task1_train_22099 | Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Isolated focal cortical dysplasia type II | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... |
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