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 |
|---|---|---|---|---|
Task1_train_17000 | Given this context: Chromosome 12, gene VWF (von Willebrand factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAA... | CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAA... |
Task1_train_17001 | An alteration has been detected in VWF (von Willebrand factor) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; von Willebrand disease type 2 | CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAA... | CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAA... |
Task1_train_17002 | A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | GGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACAT... | GGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACAT... |
Task1_train_17003 | Here’s a variant in VWF (von Willebrand factor) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary von Willebrand disease | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... |
Task1_train_17004 | Chromosome 12 houses a mutation in gene VWF (von Willebrand factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; von Willebrand disease type 2 | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... |
Task1_train_17005 | The gene VWF (von Willebrand factor) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; VWF-related disorder | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... |
Task1_train_17006 | The gene VWF (von Willebrand factor) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; von Willebrand disease type 1 | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... | AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCA... |
Task1_train_17007 | A genomic change on Chromosome 12 affects VWF (von Willebrand factor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; von Willebrand disease type 2 | CAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGG... | CAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGG... |
Task1_train_17008 | A mutation in VWF (von Willebrand factor), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary von Willebrand disease | AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGA... | AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGA... |
Task1_train_17009 | This genomic variant is located on Chromosome 12, within the VWF (von Willebrand factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; von Willebrand disease type 2 | AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGA... | AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGA... |
Task1_train_17010 | This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; von Willebrand disease type 1 | GGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAG... | GGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAG... |
Task1_train_17011 | A mutation found in VWF (von Willebrand factor) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Von Willebrand disease type 2B | AGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGT... | AGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGT... |
Task1_train_17012 | Consider this mutation in VWF (von Willebrand factor) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; von Willebrand disease type 2M | CAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTAT... | CAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTAT... |
Task1_train_17013 | Consider this mutation in VWF (von Willebrand factor) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Von Willebrand disease type 2B | AATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAG... | AATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAG... |
Task1_train_17014 | A genomic change on Chromosome 12 affects VWF (von Willebrand factor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; von Willebrand disease type 2 | TAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAG... | TAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAG... |
Task1_train_17015 | Given this variant in gene VWF (von Willebrand factor) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Von Willebrand disease type 2B | TCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTA... | TCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTA... |
Task1_train_17016 | Gene VWF (von Willebrand factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Von Willebrand disease type 2B | CTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAA... | CTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAA... |
Task1_train_17017 | This alteration occurs within gene VWF (von Willebrand factor) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Von Willebrand disease type 2B | AAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATC... | AAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATC... |
Task1_train_17018 | The variant affects gene VWF (von Willebrand factor), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Von Willebrand disease type 2B | AACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTT... | AACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTT... |
Task1_train_17019 | This mutation occurs in VWF (von Willebrand factor) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; von Willebrand disease type 2 | CAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTG... | CAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTG... |
Task1_train_17020 | Here is a genetic alteration in VWF (von Willebrand factor) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary von Willebrand disease | AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTAT... | AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTAT... |
Task1_train_17021 | Here is a mutation in VWF (von Willebrand factor) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTAT... | AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTAT... |
Task1_train_17022 | A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; von Willebrand disease type 2 | AGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTAC... | AGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTAC... |
Task1_train_17023 | A variant was discovered in gene VWF (von Willebrand factor), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; von Willebrand disease type 2M | TTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATA... | TTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATA... |
Task1_train_17024 | This variant lies on Chromosome 12 and affects the gene VWF (von Willebrand factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; von Willebrand disease type 2 | TCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAA... | TCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAA... |
Task1_train_17025 | A mutation in VWF (von Willebrand factor), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; von Willebrand disease type 2 | GAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGAC... | GAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGAC... |
Task1_train_17026 | Here is a variant affecting VWF (von Willebrand factor) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; von Willebrand disease type 1 | TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCA... | TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCA... |
Task1_train_17027 | This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary von Willebrand disease | TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCA... | TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCA... |
Task1_train_17028 | The gene VWF (von Willebrand factor) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Von Willebrand disease type 2A | TGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTG... | TGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTG... |
Task1_train_17029 | This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Von Willebrand disease type 2A | CCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCT... | CCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCT... |
Task1_train_17030 | This alteration in VWF (von Willebrand factor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAAC... | GCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAAC... |
Task1_train_17031 | Gene VWF (von Willebrand factor) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; von Willebrand disease type 1 | ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTC... | ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTC... |
Task1_train_17032 | Given this context: Chromosome 12, gene VWF (von Willebrand factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; von Willebrand disease type 2 | ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTC... | ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTC... |
Task1_train_17033 | Mutation context: Chromosome 12, Gene VWF (von Willebrand factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; von Willebrand disease type 2N | TAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCC... | TAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCC... |
Task1_train_17034 | This alteration in VWF (von Willebrand factor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; von Willebrand disease type 1 | AAAAAAAAGAAAAAATAAAAACAAGGTGTGAATCTTGATTCTGCCACTTATTGGTAACACTGAGCAAACCACTTACCTTTCTGACACACACACCCACACACACACATACACCCAAATACACACAGGCACATGCATACACTCAAACACACATATACATACATCTATGTACTCATACACACACTCACACACGTGCTCACACATACACAGATGCACACACATACACCCATGTACTCATACACACACACACGCATACACATACATACACACACGTAGCCATACACACACACGCGCTCACGCATACACACACATACACCCATGTA... | AAAAAAAAGAAAAAATAAAAACAAGGTGTGAATCTTGATTCTGCCACTTATTGGTAACACTGAGCAAACCACTTACCTTTCTGACACACACACCCACACACACACATACACCCAAATACACACAGGCACATGCATACACTCAAACACACATATACATACATCTATGTACTCATACACACACTCACACACGTGCTCACACATACACAGATGCACACACATACACCCATGTACTCATACACACACACACGCATACACATACATACACACACGTAGCCATACACACACACGCGCTCACGCATACACACACATACACCCATGTA... |
Task1_train_17035 | A variant has been detected on Chromosome 12 in VWF (von Willebrand factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; von Willebrand disease type 2N | CCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCT... | CCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCT... |
Task1_train_17036 | The gene VWF (von Willebrand factor), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; von Willebrand disease type 2N | GACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAG... | GACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAG... |
Task1_train_17037 | Consider a variant on Chromosome 12 in gene VWF (von Willebrand factor). Determine its clinical classification and disease relevance. | Pathogenic; von Willebrand disease type 1 | ACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCT... | ACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCT... |
Task1_train_17038 | This genomic variant is located on Chromosome 12, within the VWF (von Willebrand factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Von Willebrand disease type 2A | CTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCTAACAGTAAGT... | CTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCTAACAGTAAGT... |
Task1_train_17039 | This genomic variant is located on Chromosome 12, within the VWF (von Willebrand factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; von Willebrand disease type 1 | CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCAT... | CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCAT... |
Task1_train_17040 | Chromosome 12 houses a mutation in gene VWF (von Willebrand factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary von Willebrand disease | CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCAT... | CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCAT... |
Task1_train_17041 | A change on Chromosome 12 affects gene TNFRSF1A (TNF receptor superfamily member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Behcet disease | CCAGCTAGCTGTTATGGGATTGTTGTTTCATCACTGTTTTGCTGATAAGAATCCTTTGGCAAAGAGAGGTTAAAGGGCTTTTTCTTAAATGACACTGCTAGTTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGG... | CCAGCTAGCTGTTATGGGATTGTTGTTTCATCACTGTTTTGCTGATAAGAATCCTTTGGCAAAGAGAGGTTAAAGGGCTTTTTCTTAAATGACACTGCTAGTTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGG... |
Task1_train_17042 | A variant found in Chromosome 12 affects TNFRSF1A (TNF receptor superfamily member 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | TTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGC... | TTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGC... |
Task1_train_17043 | Here is a genetic alteration in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | ACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGC... | ACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGC... |
Task1_train_17044 | This genomic variant is located on Chromosome 12, within the TNFRSF1A (TNF receptor superfamily member 1A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | CTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCA... | CTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCA... |
Task1_train_17045 | Given this context: Chromosome 12, gene TNFRSF1A (TNF receptor superfamily member 1A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | ATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAA... | ATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAA... |
Task1_train_17046 | Assess the clinical impact of this variant on gene TNFRSF1A (TNF receptor superfamily member 1A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | AGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATG... | AGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATG... |
Task1_train_17047 | An alteration has been detected in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGT... | AGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGT... |
Task1_train_17048 | A change on Chromosome 12 affects gene TNFRSF1A (TNF receptor superfamily member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGG... | AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGG... |
Task1_train_17049 | Chromosome 12 houses a mutation in gene TNFRSF1A (TNF receptor superfamily member 1A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multiple sclerosis | AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGG... | AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGG... |
Task1_train_17050 | A variant has been detected on Chromosome 12 in TNFRSF1A (TNF receptor superfamily member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | TGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGT... | TGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGT... |
Task1_train_17051 | This mutation occurs in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | CGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGA... | CGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGA... |
Task1_train_17052 | This variant impacts the gene TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | GTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAG... | GTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAG... |
Task1_train_17053 | This sequence variant lies in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS) | GTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCC... | GTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCC... |
Task1_train_17054 | This mutation occurs in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCA... | TTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCA... |
Task1_train_17055 | A variant on Chromosome 12 in gene SCNN1A (sodium channel epithelial 1 subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bronchiectasis with or without elevated sweat chloride 2 | CTGCAGGCCCCAGAGGCAGGGCTTATGGCTTCCTTTCCCCGGCTTTTTCCTGGACTGTCTAGGGCCCCGCATCCAGCAGAACCTAAGAACTGTGCAGGCCTCACCCGATTCACCCCTGCCCTCCCTTTCCATCTCTCACTGACATATTTTCAACCACAAATATTTATTGAGTGCCCACTGCCCCGCCTGCTGTCCTTCCCCTTCCTGCTGGGTCCCTCCCCTCCACCAAGGCCTAAAGGGGTGAAGATGTCTGCAGGCAGCAGGGGGAGAAAAATGAGGCTAAGAGGAAGGACCCAAGAGAGCTCTGAAATGAGGCGGAA... | CTGCAGGCCCCAGAGGCAGGGCTTATGGCTTCCTTTCCCCGGCTTTTTCCTGGACTGTCTAGGGCCCCGCATCCAGCAGAACCTAAGAACTGTGCAGGCCTCACCCGATTCACCCCTGCCCTCCCTTTCCATCTCTCACTGACATATTTTCAACCACAAATATTTATTGAGTGCCCACTGCCCCGCCTGCTGTCCTTCCCCTTCCTGCTGGGTCCCTCCCCTCCACCAAGGCCTAAAGGGGTGAAGATGTCTGCAGGCAGCAGGGGGAGAAAAATGAGGCTAAGAGGAAGGACCCAAGAGAGCTCTGAAATGAGGCGGAA... |
Task1_train_17056 | A mutation found in CD27, CD27-AS1 (CD27 molecule| CD27 antisense RNA 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lymphoproliferative syndrome 2 | GCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCAGAGGGG... | GCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCAGAGGGG... |
Task1_train_17057 | A variant affecting Chromosome 12, within the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spastic paraplegia | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... |
Task1_train_17058 | This variant lies on Chromosome 12 and affects the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spastic ataxia 1 | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... |
Task1_train_17059 | This variant impacts the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Myasthenic syndrome, congenital, 25, presynaptic | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... |
Task1_train_17060 | A variant was discovered in gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Spastic paraplegia | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... | GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCAT... |
Task1_train_17061 | A variant found in Chromosome 12 affects TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spastic paraplegia | GCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGC... | GCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGC... |
Task1_train_17062 | Given this variant in gene CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Sifrim-Hitz-Weiss syndrome | CAAAAACAAAACAGATGAAGCAGACAGGCCAGCAACTAAAAGGAAGACTGGACTTACACATTTGTCTTTAGTATGGCATTCAGTCACCCCATCTCTTACCTCAATGGCAGTCTCAGGGGCTGTAGATTTAACCTCCTTTTCTCCTTCTATGCTCTCTTCTTCTTTGAGGCTATTTTCCTCTATTTTTATCCCATCTTCTGCAGAACAATAAAAGACAATCAATTAGGAAGAAGGTACTAGATCAGAGAGAAGGTCATTTCTTCCCAGTTTGTCTCATCTTAAATTGTCCTCTCGTGCCTTTAAGAGCCAGCCCTATTCTT... | CAAAAACAAAACAGATGAAGCAGACAGGCCAGCAACTAAAAGGAAGACTGGACTTACACATTTGTCTTTAGTATGGCATTCAGTCACCCCATCTCTTACCTCAATGGCAGTCTCAGGGGCTGTAGATTTAACCTCCTTTTCTCCTTCTATGCTCTCTTCTTCTTTGAGGCTATTTTCCTCTATTTTTATCCCATCTTCTGCAGAACAATAAAAGACAATCAATTAGGAAGAAGGTACTAGATCAGAGAGAAGGTCATTTCTTCCCAGTTTGTCTCATCTTAAATTGTCCTCTCGTGCCTTTAAGAGCCAGCCCTATTCTT... |
Task1_train_17063 | This gene mutation involves CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CCTGTAATCCCACCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTT... | CCTGTAATCCCACCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTT... |
Task1_train_17064 | A variant has been detected on Chromosome 12 in CHD4 (chromodomain helicase DNA binding protein 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Sifrim-Hitz-Weiss syndrome | CCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGG... | CCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGG... |
Task1_train_17065 | This sequence variant lies in CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Sifrim-Hitz-Weiss syndrome | CACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCA... | CACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCA... |
Task1_train_17066 | A genomic change on Chromosome 12 affects CHD4 (chromodomain helicase DNA binding protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sifrim-Hitz-Weiss syndrome | AGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCC... | AGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCC... |
Task1_train_17067 | Gene CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCA... | CACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCA... |
Task1_train_17068 | This variant affects gene CHD4 (chromodomain helicase DNA binding protein 4) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Sifrim-Hitz-Weiss syndrome | GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGA... | GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGA... |
Task1_train_17069 | A variant found in Chromosome 12 affects CHD4 (chromodomain helicase DNA binding protein 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGA... | GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGA... |
Task1_train_17070 | A mutation in CHD4 (chromodomain helicase DNA binding protein 4), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGG... | CTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGG... |
Task1_train_17071 | This variant affects the gene CHD4 (chromodomain helicase DNA binding protein 4) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Sifrim-Hitz-Weiss syndrome | AAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCT... | AAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCT... |
Task1_train_17072 | The following genetic variant occurs in CD4 (CD4 molecule) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Immunodeficiency 79 | CACAGTGTATTGTGTCTCTGGTTAATAGAGAACGGAGAATGGTGATGACTTTCACCAAGCACACTGCCTGCAAGAACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATG... | CACAGTGTATTGTGTCTCTGGTTAATAGAGAACGGAGAATGGTGATGACTTTCACCAAGCACACTGCCTGCAAGAACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATG... |
Task1_train_17073 | This variant impacts the gene CDCA3, GNB3 (cell division cycle associated 3| G protein subunit beta 3) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital stationary night blindness 1H | ACATCATGTTTCTTTACCCCTTAAGTACTTCCCGAAACAAAGCCCTTCTGTAGCATAATCACTGTATGATTCTTAAGATCAGGAAACTCAACATTGACACAATACTACAGTCTACAGTCTATATTCAAATTTCACCAATAGCCTCAAAAATGTCCATAATAGCTCATGTTTTTTTCTGTCCAGGATCCAATCCAGAAACGTGCATTACCTTTCCTCGCCATATCTTTTTCGTCACCACCTTTAAACTGGAACTGTTTTCCCACCTTTGTCTTTTATGTCATTGACGTTTTTGAAGAGTACAAACCAGTTTTCTGTAGACT... | ACATCATGTTTCTTTACCCCTTAAGTACTTCCCGAAACAAAGCCCTTCTGTAGCATAATCACTGTATGATTCTTAAGATCAGGAAACTCAACATTGACACAATACTACAGTCTACAGTCTATATTCAAATTTCACCAATAGCCTCAAAAATGTCCATAATAGCTCATGTTTTTTTCTGTCCAGGATCCAATCCAGAAACGTGCATTACCTTTCCTCGCCATATCTTTTTCGTCACCACCTTTAAACTGGAACTGTTTTCCCACCTTTGTCTTTTATGTCATTGACGTTTTTGAAGAGTACAAACCAGTTTTCTGTAGACT... |
Task1_train_17074 | Given this context: Chromosome 12, gene TPI1 (triosephosphate isomerase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Triosephosphate isomerase deficiency | CAAGGAAAGATGGAGTGAAGAACCCTTCCCTCTCTTTATTCACACAGGAGTGGAGGATTTCCCAAATGTCCCTAACTGGCTAGCTGGCTTCAGGCTGGGACTCAGTCCCTGCAGTTCCTGCCAGGCCTTGCCAGCCGGGGCGAGGGTTGGGATGATCCTGGCGGCCTATGCCTGTGTGGGCTGCCCCTCCCGCTGTGAACCCTGCATTTGTCCCGCAAGTTTTCACTCAGGTAGACTCCCTGGGTACAAGGGTGCCTGCTCAGCAGTCGGGCATGAGCTGCTCCGATGGGCGAAGGAGGTTGTCTATCCCACAGTTGGAG... | CAAGGAAAGATGGAGTGAAGAACCCTTCCCTCTCTTTATTCACACAGGAGTGGAGGATTTCCCAAATGTCCCTAACTGGCTAGCTGGCTTCAGGCTGGGACTCAGTCCCTGCAGTTCCTGCCAGGCCTTGCCAGCCGGGGCGAGGGTTGGGATGATCCTGGCGGCCTATGCCTGTGTGGGCTGCCCCTCCCGCTGTGAACCCTGCATTTGTCCCGCAAGTTTTCACTCAGGTAGACTCCCTGGGTACAAGGGTGCCTGCTCAGCAGTCGGGCATGAGCTGCTCCGATGGGCGAAGGAGGTTGTCTATCCCACAGTTGGAG... |
Task1_train_17075 | The gene TPI1 (triosephosphate isomerase 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Triosephosphate isomerase deficiency | CCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTG... | CCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTG... |
Task1_train_17076 | A mutation in TPI1 (triosephosphate isomerase 1), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Triosephosphate isomerase deficiency | GAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAA... | GAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAA... |
Task1_train_17077 | An alteration has been detected in TPI1 (triosephosphate isomerase 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Triosephosphate isomerase deficiency | GGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAG... | GGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAG... |
Task1_train_17078 | Consider a variant on Chromosome 12 in gene TPI1 (triosephosphate isomerase 1). Determine its clinical classification and disease relevance. | Pathogenic; Triosephosphate isomerase deficiency | GCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGC... | GCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGC... |
Task1_train_17079 | This variant impacts the gene ATN1 (atrophin 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCA... | CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCA... |
Task1_train_17080 | A sequence alteration has been identified in ATN1 (atrophin 1) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Congenital ATN1 related disorder | CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCA... | CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCA... |
Task1_train_17081 | A genomic change on Chromosome 12 affects ATN1 (atrophin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; ATN1-related disorder | TCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCG... | TCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCG... |
Task1_train_17082 | The following genetic variant occurs in ATN1 (atrophin 1) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital ATN1 related disorder | TACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGC... | TACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGC... |
Task1_train_17083 | With a mutation on Chromosome 12 in gene C12orf57 (chromosome 12 open reading frame 57), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Temtamy syndrome | GGTGCTGGTGCCCCCTCCTGCCCCAAGGCTGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAA... | GGTGCTGGTGCCCCCTCCTGCCCCAAGGCTGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAA... |
Task1_train_17084 | The gene EMG1 (EMG1 N1-specific pseudouridine methyltransferase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bowen-Conradi syndrome | TATTCAATTTCAAAATCTACATCCCTTTTTTCGCAGACTTTTTGGAGCCATATATCTCAAGAATGTTGCTAGACATATACATTCCAGTGATACATAAAAACTTAACCTTCCAAAACTTGTATTTGTATATAACAGTTTGTTTTTAGACTTTTTACTGACCACCCTAATGCTCCTTGGGACTCCAAATTGCAACTTGGAATTATTTCTTTTAGCTGCTACAGATGTAGTCCACTTCTTTAACATCAAACTTCTGATGTCTTTTCCAGTGTACAGAGAGTTGTTAGGATAGTGTCTGTCAGTCATTCCCATCCTGCCCTGCT... | TATTCAATTTCAAAATCTACATCCCTTTTTTCGCAGACTTTTTGGAGCCATATATCTCAAGAATGTTGCTAGACATATACATTCCAGTGATACATAAAAACTTAACCTTCCAAAACTTGTATTTGTATATAACAGTTTGTTTTTAGACTTTTTACTGACCACCCTAATGCTCCTTGGGACTCCAAATTGCAACTTGGAATTATTTCTTTTAGCTGCTACAGATGTAGTCCACTTCTTTAACATCAAACTTCTGATGTCTTTTCCAGTGTACAGAGAGTTGTTAGGATAGTGTCTGTCAGTCATTCCCATCCTGCCCTGCT... |
Task1_train_17085 | This variant lies on Chromosome 12 and affects the gene C1S (complement C1s). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | TTCGATTAGGCCAAGCCTTCATTTGGCACTTCTTTTTTATTTTAGAATTTATTTATTTATGTATTATTTTTAATAATTTCAATAGTTTTGGGGGTACTGGTGTTTTTGGTTACATGGATGAGTTCCTTAGTGGTCAATTCTGAGATTTTAGTGCACTTGTTACTTGAGCGGTGTACACTATACCCAGTGTGTAGTTTTCTCGCCCCTGTTTCAACCTCCTCCCACGTTGAGTCCCCAGAGTCCATTATATCACTCTGTATTGGCATCTATTCTTAGTTACTCATAAGCTGAGATGAAGCCACAAGAAGGAGGAAGATAAG... | TTCGATTAGGCCAAGCCTTCATTTGGCACTTCTTTTTTATTTTAGAATTTATTTATTTATGTATTATTTTTAATAATTTCAATAGTTTTGGGGGTACTGGTGTTTTTGGTTACATGGATGAGTTCCTTAGTGGTCAATTCTGAGATTTTAGTGCACTTGTTACTTGAGCGGTGTACACTATACCCAGTGTGTAGTTTTCTCGCCCCTGTTTCAACCTCCTCCCACGTTGAGTCCCCAGAGTCCATTATATCACTCTGTATTGGCATCTATTCTTAGTTACTCATAAGCTGAGATGAAGCCACAAGAAGGAGGAAGATAAG... |
Task1_train_17086 | Here is a genetic alteration in C1R (complement C1r) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | TCAGCATTTTCTTTATATTGTACAATCAAAACAAAACACAGATATTTATTGTTATCCATAACCCTAATTGTAAATGTGTGCATAAACTTAACTGTTCTTGTTGCCTTCCTGAGTAAATATTTTAAATATGACCTTCCTTACAAAATATTTTTATATAAATTAAATACAACTTTTGACTCATTTTGCACACTGGCATTTCTCATAAAACTTTATTTGGAAAAAGTTATATTCAATGACCCAATGGTATCAAAGTGGAAGAGGAAAGTGACAACTAGAGATTGATAACTATATCCTCTGCAATCCTCAGAAGAAAGAAAGGG... | TCAGCATTTTCTTTATATTGTACAATCAAAACAAAACACAGATATTTATTGTTATCCATAACCCTAATTGTAAATGTGTGCATAAACTTAACTGTTCTTGTTGCCTTCCTGAGTAAATATTTTAAATATGACCTTCCTTACAAAATATTTTTATATAAATTAAATACAACTTTTGACTCATTTTGCACACTGGCATTTCTCATAAAACTTTATTTGGAAAAAGTTATATTCAATGACCCAATGGTATCAAAGTGGAAGAGGAAAGTGACAACTAGAGATTGATAACTATATCCTCTGCAATCCTCAGAAGAAAGAAAGGG... |
Task1_train_17087 | A sequence alteration has been identified in C1R (complement C1r) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAG... | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAG... |
Task1_train_17088 | The variant affects gene C1R (complement C1r), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGG... | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGG... |
Task1_train_17089 | A variant found in Chromosome 12 affects C1R (complement C1r). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGT... | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGT... |
Task1_train_17090 | Here is a mutation in C1R (complement C1r) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | TGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCT... | TGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCT... |
Task1_train_17091 | Given this context: Chromosome 12, gene C1R (complement C1r) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | GTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTT... | GTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTT... |
Task1_train_17092 | Here is a mutation in C1R (complement C1r) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | TATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTT... | TATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTT... |
Task1_train_17093 | Gene C1R (complement C1r) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | CAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGG... | CAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGG... |
Task1_train_17094 | This gene mutation involves C1R (complement C1r) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | AACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGG... | AACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGG... |
Task1_train_17095 | Gene C1R, C1RL (complement C1r| complement C1r subcomponent like), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | CTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTG... | CTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTG... |
Task1_train_17096 | Mutation context: Chromosome 12, Gene C1R (complement C1r). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, periodontal type 1 | TGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGG... | TGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGG... |
Task1_train_17097 | A variant affecting Chromosome 12, within the gene GDF3 (growth differentiation factor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Microphthalmia, isolated, with coloboma 6 | AGCCATTAAATTAACTAACTAGGGCTAGGCGCAGTGGCTTACACCTGCACTCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGCCGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCTCATCTCTATTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGC... | AGCCATTAAATTAACTAACTAGGGCTAGGCGCAGTGGCTTACACCTGCACTCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGCCGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCTCATCTCTATTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGC... |
Task1_train_17098 | Given a variant located on Chromosome 12 and affecting AICDA (activation induced cytidine deaminase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hyper-IgM syndrome type 2 | GACAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAACGGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCTGGCTAATTTTTGCATTTTGAGTACAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCACAGGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCTCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGAGACA... | GACAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAACGGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCTGGCTAATTTTTGCATTTTGAGTACAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCACAGGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCTCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGAGACA... |
Task1_train_17099 | Assess the clinical impact of this variant on gene AICDA (activation induced cytidine deaminase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hyper-IgM syndrome type 2 | TTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATT... | TTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATT... |
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