ID string | question string | answer string | reference_sequence string | variant_sequence string |
|---|---|---|---|---|
Task1_train_34100 | A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | AAGAAGAAAAGCAAACACCGGAATTTAAAGCAAAAAGGGATAGACTAACTCTACTGTTTTGTCCAAATACAGTTGGGTTTATATGATCAGGACTGCCCTTATCTGTAAAGCTGGTAACCCCTGATCCTTGAAGGGGAAAGGTAAACACCAGCTGCCAGTCTTTTGGTTGTACAACAAGATACGCATCCATTGATGCTTTATCCCAAAGTCAGGAAGTACCTTGCCAATAAGGACTGCCTTTTAAAGTTCTTTTGAGGCCAGGCATGGTGGCTCTTGCCTATCATCCCACACTTTGGGATGCTGAGTAGGAGGAGGGCTTG... | AAGAAGAAAAGCAAACACCGGAATTTAAAGCAAAAAGGGATAGACTAACTCTACTGTTTTGTCCAAATACAGTTGGGTTTATATGATCAGGACTGCCCTTATCTGTAAAGCTGGTAACCCCTGATCCTTGAAGGGGAAAGGTAAACACCAGCTGCCAGTCTTTTGGTTGTACAACAAGATACGCATCCATTGATGCTTTATCCCAAAGTCAGGAAGTACCTTGCCAATAAGGACTGCCTTTTAAAGTTCTTTTGAGGCCAGGCATGGTGGCTCTTGCCTATCATCCCACACTTTGGGATGCTGAGTAGGAGGAGGGCTTG... |
Task1_train_34101 | A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic? | Benign | ACTGGAAAAACGTCAACCTGGTGGAAGCTGAACCAGAAGAAGGTACTCCTAATGAGGACAGAAACACCAATGATAACACAATGGCGAAAGTCCCAGTAAGAGATGGGTATAAATCAGGGGTTCGAAAAGTGTGGTCCCAGACCATCAGCATCACCTGACAACGTGGTAGAAATGCAAATTTTCAGGACCACCATAGCCCTACTGAATCCAAAATTATGTTTTAACAATCTGCTTCAGCAAGCCCTCTGGGGGTTCTGATGCCCAGAACTAGTCATCTAAACCAACCATTGGCAAACTCTAGCCTGTCAGCAGTGTCTTTT... | ACTGGAAAAACGTCAACCTGGTGGAAGCTGAACCAGAAGAAGGTACTCCTAATGAGGACAGAAACACCAATGATAACACAATGGCGAAAGTCCCAGTAAGAGATGGGTATAAATCAGGGGTTCGAAAAGTGTGGTCCCAGACCATCAGCATCACCTGACAACGTGGTAGAAATGCAAATTTTCAGGACCACCATAGCCCTACTGAATCCAAAATTATGTTTTAACAATCTGCTTCAGCAAGCCCTCTGGGGGTTCTGATGCCCAGAACTAGTCATCTAAACCAACCATTGGCAAACTCTAGCCTGTCAGCAGTGTCTTTT... |
Task1_train_34102 | A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | ACCAGGAACCGGGCAAAGCAGTAAAGTGGAACGTCACTGCTGCCCACCAAGCCCTCATTTGTTAGCCCCCATTTCTTCAGTGGCTGCCCCAAACACTCCCTTCTGTCTCTCAGCTGCCCTCTTGTCCACAGGCCAGTCAAAGAGAACTGCCTGAAGTTTCCAGAATCTCATGATTTTGTGTCTCCATGCCTGCAAACCCTATTTGCTTGGCAAACACCTACTCATCCTTCAGGATGAAGTTCAAGAGCCATCTTCTCACAAAGCATCTTTTGATCTTTTCCCCACAGATCTCTTCCCTCCCCCTAGAAGATTCCTTTTCC... | ACCAGGAACCGGGCAAAGCAGTAAAGTGGAACGTCACTGCTGCCCACCAAGCCCTCATTTGTTAGCCCCCATTTCTTCAGTGGCTGCCCCAAACACTCCCTTCTGTCTCTCAGCTGCCCTCTTGTCCACAGGCCAGTCAAAGAGAACTGCCTGAAGTTTCCAGAATCTCATGATTTTGTGTCTCCATGCCTGCAAACCCTATTTGCTTGGCAAACACCTACTCATCCTTCAGGATGAAGTTCAAGAGCCATCTTCTCACAAAGCATCTTTTGATCTTTTCCCCACAGATCTCTTCCCTCCCCCTAGAAGATTCCTTTTCC... |
Task1_train_34103 | This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | TTAACTCAGTGCCTTCCAGCTCAACTTCCTTTTGTTAACAGCCTCATCCTCTTGCTATTTCCTGGTTCAAATTCTTTCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACAT... | TTAACTCAGTGCCTTCCAGCTCAACTTCCTTTTGTTAACAGCCTCATCCTCTTGCTATTTCCTGGTTCAAATTCTTTCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACAT... |
Task1_train_34104 | Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | TCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACATGGGGTCACCCTCAGGAGCAGAGTGAACCAGCCAGGGCTGTGGGAGGCAGGCCTTGTAGTAATAAAAGGATGAGATG... | TCCCAGAGAAATGGTCTGATTTTCCCAGCTCATCTCTTTGCCAAAACCAACCAGAGATCCCCGACCAGCCTTGTTCTTGTCACCTCCCATTTCCTCCATTGGTGAGGGAGGGATCCCCTGCTCTAAATAGGACAAGATGGCCAAAACAAGACATTTGACACTGTGCAGGTGAGACTGGCAGCAGTTTACTAGTCACAAATACAGTCTACTGGGGAAAGATATCATAAGCCACACAGGGCCACATGGGGTCACCCTCAGGAGCAGAGTGAACCAGCCAGGGCTGTGGGAGGCAGGCCTTGTAGTAATAAAAGGATGAGATG... |
Task1_train_34105 | This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | TGTCACAGCAGCACGTGGTATTTCAGGTCTTACAATACAAGCCTGTGCCCTCAGCTGTGACCCATTTGCACCCAGAACAACACACTGCTGGTTACAGTTATTTAAGGAAGCATCTTTTCCTGAGGACCTTAATGAAGACCTGTGCTCACTCCACCCTCCTCTCCTCTCTGTGGTGGCTGCTGCCTGGATTCCAGCTTCAGCCACTGGACTTGGGATTTGGAACTGATGCCTGTGGAACTGGGTCTCTGTGAAGAGTGGGGAACCTGCTGAGACTTGTTCTTGGGAATTGAGCTATAGACTAGAAGATTGTGCAGTAAACA... | TGTCACAGCAGCACGTGGTATTTCAGGTCTTACAATACAAGCCTGTGCCCTCAGCTGTGACCCATTTGCACCCAGAACAACACACTGCTGGTTACAGTTATTTAAGGAAGCATCTTTTCCTGAGGACCTTAATGAAGACCTGTGCTCACTCCACCCTCCTCTCCTCTCTGTGGTGGCTGCTGCCTGGATTCCAGCTTCAGCCACTGGACTTGGGATTTGGAACTGATGCCTGTGGAACTGGGTCTCTGTGAAGAGTGGGGAACCTGCTGAGACTTGTTCTTGGGAATTGAGCTATAGACTAGAAGATTGTGCAGTAAACA... |
Task1_train_34106 | This genomic variant is located on Chromosome 2. Can you determine its pathogenicity and name any linked disease? | Benign | CATCCCTGCTTTAGTCAGGCCAATCCAGTAGATGAGTCCCCCCGCTGTTTTATACAGAAACTCCTGTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGA... | CATCCCTGCTTTAGTCAGGCCAATCCAGTAGATGAGTCCCCCCGCTGTTTTATACAGAAACTCCTGTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGA... |
Task1_train_34107 | A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | GTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGAAGGCCTCAGCTGAACTCCAGAGCACGGACCGCAAGAGAATGGTTCATATGATAATACCTGAATTA... | GTAGGAAAGACAGGATAAGCAGAGGTGCGGCCACACTTGGAGCTTGATCATCTGTCTCTGGGTGTTCTTCACCTGCGCTCAGTGACAGCCCTGACCCACAGATGCGCTGCACAAACTGGCCTCTCAAGCTTCTTCCTGCCCTTGCCCAGAGCCCAGATTTCATCTTCCAGATTATGATGTGTCCCTGCTCTGCAGCTAACAAGCTCAGGACTCAAGCCTTTCTGCCACTCAGGAAGCAGGTGCTGAAGCACAGGAAGGCCTCAGCTGAACTCCAGAGCACGGACCGCAAGAGAATGGTTCATATGATAATACCTGAATTA... |
Task1_train_34108 | This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Benign | CAGCCCCTAAGTCCTCCCCAACCTCAAGCCCTCTCTCCTTAACTTCCTAGCCCATGGCTGCCCCTCTTTTGCCCCCACTCTCCTCCCCAACCCACCAGCCCAATGGCCTCAGGTCTGGGACAGGTAAGATCCCATGGGCCACTGGTCAGCTTCAATGTAATTTTCTGAGTCACTTACTTTGTCGTTTGAGCAACTTGCTCATATTCTCCAAGCTGCCCTGGAGTGCCCGGATCTTTGTATTTAAAGCACTGGCTTTCTCCAAATCACTTTTTAACTCTGGGATTTGGGCATTTAAGGTACTGACTTCTTCCCAACTTCTT... | CAGCCCCTAAGTCCTCCCCAACCTCAAGCCCTCTCTCCTTAACTTCCTAGCCCATGGCTGCCCCTCTTTTGCCCCCACTCTCCTCCCCAACCCACCAGCCCAATGGCCTCAGGTCTGGGACAGGTAAGATCCCATGGGCCACTGGTCAGCTTCAATGTAATTTTCTGAGTCACTTACTTTGTCGTTTGAGCAACTTGCTCATATTCTCCAAGCTGCCCTGGAGTGCCCGGATCTTTGTATTTAAAGCACTGGCTTTCTCCAAATCACTTTTTAACTCTGGGATTTGGGCATTTAAGGTACTGACTTCTTCCCAACTTCTT... |
Task1_train_34109 | A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation? | Benign | TGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGATAGGACAGAGAAGTTCCTTCCATTGGCAGGAACTCAATAGTATGAGACAGATAGGCTTCATCT... | TGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGATAGGACAGAGAAGTTCCTTCCATTGGCAGGAACTCAATAGTATGAGACAGATAGGCTTCATCT... |
Task1_train_34110 | Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GAGGTGGGTGGGGGTGGGGGCGGGGACAGGGGGAGGGAGAGAGAGAGAGAGAGAGAGGACAGCTTACGCCATTATTTCTGTGTATCAGAGACTTTTAGTACTTTCACTAATTTTGCTACTGCTATCTAGAAGGCAGAGCCAGATGTACAGGATGGAACATGAAAGTGAAACAGGAGTGTGACCGCTGAAGTACAGCGTCACAGGGAGATGTTTAGGCCTCCAGATAACTGTGGGCGGGCCTGACTGATGTCAAGCCCTCCACAAAAGGTGGTGGAGTAAAGTCTTCTCTAAACTCCCCCTGGGAAAGGGAGACTCCCTTT... | GAGGTGGGTGGGGGTGGGGGCGGGGACAGGGGGAGGGAGAGAGAGAGAGAGAGAGAGGACAGCTTACGCCATTATTTCTGTGTATCAGAGACTTTTAGTACTTTCACTAATTTTGCTACTGCTATCTAGAAGGCAGAGCCAGATGTACAGGATGGAACATGAAAGTGAAACAGGAGTGTGACCGCTGAAGTACAGCGTCACAGGGAGATGTTTAGGCCTCCAGATAACTGTGGGCGGGCCTGACTGATGTCAAGCCCTCCACAAAAGGTGGTGGAGTAAAGTCTTCTCTAAACTCCCCCTGGGAAAGGGAGACTCCCTTT... |
Task1_train_34111 | A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | CCCCTCCTAGTGTACTGCCTCTTTCAGGATGAGAACCTTCAATGAGACCAAGGCACTGCCTGTAACTGGGGCTCACACTCTGGTTAAAAAGATCCACCCTTCCTTCCAGCAGGCACTGGGCATTCACTCTGTGCTAGGAACCTGCTAGACCCTGAGGTCTAAAGATGAACAATATGTGGTCCCCACGCTCAAGGAGCTTAGAGTCTAGCAGAGGAGGCAGGTTACAGGCCCATCAAGGAGGAGAGGGTCCAGGAGGGTGTCAGGAGGCATGATGCTTAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGG... | CCCCTCCTAGTGTACTGCCTCTTTCAGGATGAGAACCTTCAATGAGACCAAGGCACTGCCTGTAACTGGGGCTCACACTCTGGTTAAAAAGATCCACCCTTCCTTCCAGCAGGCACTGGGCATTCACTCTGTGCTAGGAACCTGCTAGACCCTGAGGTCTAAAGATGAACAATATGTGGTCCCCACGCTCAAGGAGCTTAGAGTCTAGCAGAGGAGGCAGGTTACAGGCCCATCAAGGAGGAGAGGGTCCAGGAGGGTGTCAGGAGGCATGATGCTTAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGG... |
Task1_train_34112 | Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance. | Benign | TAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGGAGGGAAGGGCTAACCAGGCATAAAGAGCAGCCGCATGGAAAGGCATAGAGGCACCTGGGAACATGATGTATGCAGAGAATGAAAACTCAGAGCAGCTGGGGATCAGATGTAAGTTGGAGGCTGACAAGATTTGGCAGGAGCCCACATCAGTGAAGGACCTTGGCTGGGGAAGAAAGGGGATTTTAAGCAGGTGTAATTACATAGGGTGCAAAACCCAGAAAACTCAGAAGATACTGGGAATCTTAAGTGAATCCTGAAATGGGGAGGGCTTTGGGG... | TAAGAGGAGTCTTGAAAGATGCGCAGCAGTTGGCTATATGAAGGAGGGAAGGGCTAACCAGGCATAAAGAGCAGCCGCATGGAAAGGCATAGAGGCACCTGGGAACATGATGTATGCAGAGAATGAAAACTCAGAGCAGCTGGGGATCAGATGTAAGTTGGAGGCTGACAAGATTTGGCAGGAGCCCACATCAGTGAAGGACCTTGGCTGGGGAAGAAAGGGGATTTTAAGCAGGTGTAATTACATAGGGTGCAAAACCCAGAAAACTCAGAAGATACTGGGAATCTTAAGTGAATCCTGAAATGGGGAGGGCTTTGGGG... |
Task1_train_34113 | A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease. | Benign | ATTTTTAGTAGAGACACGGTTTTGCCATTTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCGAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGTATTAGTCCATTTTCACGCTATTGATAAAGACATACCCGAGACTGGGCAATTTACAAAAGAAACAGGTTTAATGATTTACAGTTCCACGTGGCTGGGGAGGCCTCACACTCATGGCAGAAGGCAAGGAGGAGCAAGTCACATCTTACATGGATGGCAGCAGGCAAAGAGAGACAGATTGGGCAGGGAAAATCCCCCTTATAAAACTGTCAG... | ATTTTTAGTAGAGACACGGTTTTGCCATTTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCGAGCAATCTGCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGTATTAGTCCATTTTCACGCTATTGATAAAGACATACCCGAGACTGGGCAATTTACAAAAGAAACAGGTTTAATGATTTACAGTTCCACGTGGCTGGGGAGGCCTCACACTCATGGCAGAAGGCAAGGAGGAGCAAGTCACATCTTACATGGATGGCAGCAGGCAAAGAGAGACAGATTGGGCAGGGAAAATCCCCCTTATAAAACTGTCAG... |
Task1_train_34114 | Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | AATCACTCTAACCTCAATTGTTAACACCTAGAAGCTTCCCTTGGGCTTCTTACGCCCCCATCCCTCTACACACAGACTGTTGGTTTCTCCTTCCTCCTATGTGCTCTCAAAGCACTTAGCGCTTAGCATACTTTATTGAAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGC... | AATCACTCTAACCTCAATTGTTAACACCTAGAAGCTTCCCTTGGGCTTCTTACGCCCCCATCCCTCTACACACAGACTGTTGGTTTCTCCTTCCTCCTATGTGCTCTCAAAGCACTTAGCGCTTAGCATACTTTATTGAAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGC... |
Task1_train_34115 | Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | AAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGCTCACAGCAACTACAGACTGAGCTTAGTTTGAATTCCGTAGCACACAACTGGGATATCCACACTGTACAACTTTTAACGATTTTTAAAATTTTGGTACTGTCAAGCATCTCAAATTCACTGCGTCCAAAATAGAGCTGT... | AAAGTACGAACTTGTCACTTGTCTGTCCACCCCCCATGACTAAGCTTCTTCAGAAATAGAACTTCCATGTCTCTTCCCAACACAAGCGTTTTATATGTATTTTGTTGAAGAATTTAAAATGTGATCTATGAAATTATTACTCATTTATGTTTCAAACCCCAACCTTTCCCTGAGTTCCCAGCTCACAGCAACTACAGACTGAGCTTAGTTTGAATTCCGTAGCACACAACTGGGATATCCACACTGTACAACTTTTAACGATTTTTAAAATTTTGGTACTGTCAAGCATCTCAAATTCACTGCGTCCAAAATAGAGCTGT... |
Task1_train_34116 | Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | GTTTCTACCCACCTATACTCTGCCATCCCCTGAAGTCCTTTTCCCATGCTACACCTGTCAAGCGCGTCTGTGTGAAGAGACCACTAAAACAGGCTTTGTGTGAGCCACAAGGCTGTTTATTCACTTGGGTGCAAGTGGGCTGAGTCCGAAAAGAGAGTCAACTAATGGTGATGGGGAAGGGGTTGCTTTATAGGAGTTGGGTAGGTAATGGAAAATTACAGTAAAAGGTGGTTATCTATTAGCAGAGGAGGACGGGGTCACAAGGTACATGGTGGGGAGATCATAAGACTTATTGTCCAGAAGAAGAATGTCACAAGGTC... | GTTTCTACCCACCTATACTCTGCCATCCCCTGAAGTCCTTTTCCCATGCTACACCTGTCAAGCGCGTCTGTGTGAAGAGACCACTAAAACAGGCTTTGTGTGAGCCACAAGGCTGTTTATTCACTTGGGTGCAAGTGGGCTGAGTCCGAAAAGAGAGTCAACTAATGGTGATGGGGAAGGGGTTGCTTTATAGGAGTTGGGTAGGTAATGGAAAATTACAGTAAAAGGTGGTTATCTATTAGCAGAGGAGGACGGGGTCACAAGGTACATGGTGGGGAGATCATAAGACTTATTGTCCAGAAGAAGAATGTCACAAGGTC... |
Task1_train_34117 | Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | CCATATCTAACATTTTAAATAGTCTCCATTAGGTTTGCTGACTTTCAAGCAAGTGAAAAAAAGATAATCTCCATAAAGTATTTTATATATTATACTTTAAGTTAATAGGTTCACAGTTCACACATTTTGTGTTAGAGTCCCTTCTGGCTTCCCATTGAATGTATTATCTCTTTTCTAGCCTGTACCAGAGATTAAAGTTGTGTCAAATCTGCCAGCCATAACCATGGAGGAAGTAGCCCCAGTGAGTGTTAGTGATGCAGCTCTCCTGGCCCCAGAGGAGATCAAGGTAAGAAGCCAATGTTGAAACCTTAAATGTCTGT... | CCATATCTAACATTTTAAATAGTCTCCATTAGGTTTGCTGACTTTCAAGCAAGTGAAAAAAAGATAATCTCCATAAAGTATTTTATATATTATACTTTAAGTTAATAGGTTCACAGTTCACACATTTTGTGTTAGAGTCCCTTCTGGCTTCCCATTGAATGTATTATCTCTTTTCTAGCCTGTACCAGAGATTAAAGTTGTGTCAAATCTGCCAGCCATAACCATGGAGGAAGTAGCCCCAGTGAGTGTTAGTGATGCAGCTCTCCTGGCCCCAGAGGAGATCAAGGTAAGAAGCCAATGTTGAAACCTTAAATGTCTGT... |
Task1_train_34118 | This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | TTTAAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTTGCCAGGGATGGTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAAGACAATGGTTTGAGCCTGGACTGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCCGCCTGGGTTACAGAGTGAGACTCCACCTCCACAAACAAACAAACAAAAAACAACAAAAAAACCCAAAATTATGTTGCCAAGCTAGTATTACCTGTAAAACATTAGGGTTGGGGGAATTTGAGCAAACAATTGTTTATCTGCTCA... | TTTAAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTTGCCAGGGATGGTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAAGACAATGGTTTGAGCCTGGACTGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCCGCCTGGGTTACAGAGTGAGACTCCACCTCCACAAACAAACAAACAAAAAACAACAAAAAAACCCAAAATTATGTTGCCAAGCTAGTATTACCTGTAAAACATTAGGGTTGGGGGAATTTGAGCAAACAATTGTTTATCTGCTCA... |
Task1_train_34119 | A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | AACTGCAAACCAATGCTCAAAGAAATCAGAGAGGACACAAACAAATGGAGAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAAAGGCCATACTGCCCTACTCCCATTAAACTACCATTGACATTCTTCACAGAATTAGAAAAACTATTTAACATTCATACAGAACCAAAAGAGCCCAAATAGCCAAGACAATCCTAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGAGGCATCACATTAGCTGACTTCAAACTGTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACAAGAACAG... | AACTGCAAACCAATGCTCAAAGAAATCAGAGAGGACACAAACAAATGGAGAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAAAGGCCATACTGCCCTACTCCCATTAAACTACCATTGACATTCTTCACAGAATTAGAAAAACTATTTAACATTCATACAGAACCAAAAGAGCCCAAATAGCCAAGACAATCCTAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGAGGCATCACATTAGCTGACTTCAAACTGTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACAAGAACAG... |
Task1_train_34120 | This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | AAGTACTTCCTCAAGGAATGCTGAACAGTCCTACCATGTGTCAGCATCATGTAAATCAGGCTTTGCTCCCCAGTAGAAAAAAATTTCCTAATTGCAAGATTATTCATTTTGTAGATGATATTTTACTAGCAGACCCAACAGAGCCAATACTTTTGAGTTTATATGCCTCTGTCGTTAAGATGTTAATCATAGCACCTGAAAAAGTACAGATGTCCTCACCTTGGAAATATCTTAGGTACATACTAACTTCCTGGTCAGTAAGACCTCAAAAGGTTAAATTAAATACTAGCAACTTACATACCTTAAATGATTATCAAAAA... | AAGTACTTCCTCAAGGAATGCTGAACAGTCCTACCATGTGTCAGCATCATGTAAATCAGGCTTTGCTCCCCAGTAGAAAAAAATTTCCTAATTGCAAGATTATTCATTTTGTAGATGATATTTTACTAGCAGACCCAACAGAGCCAATACTTTTGAGTTTATATGCCTCTGTCGTTAAGATGTTAATCATAGCACCTGAAAAAGTACAGATGTCCTCACCTTGGAAATATCTTAGGTACATACTAACTTCCTGGTCAGTAAGACCTCAAAAGGTTAAATTAAATACTAGCAACTTACATACCTTAAATGATTATCAAAAA... |
Task1_train_34121 | This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | CAGGTTTTAAAAATTTGTTTTGAAGGAAACAGAAGAAATGTGTGTGATGCTTGTCTCTAATTTGCCTAATAAAGGATATTCTGTAGAAGAAGTTTATGACTTAGCAAAACCATTTGGTGGTTTAAAGGATATCTTGATTTTATCATCTCATAAAAAGGTAAGAGTTGATTAATAGCTGTTCATATCCTCTGCAAGCATGCATGCTTTGAAAAACATTAAATTTACAAAACTAAAAAGAAAAGGTTTAAAAGCAGTATCTCAAAGTAAACTTTCAAGCTAAGGGATTTTAAAATATAAAACACAGATATCCTGTATTTTAG... | CAGGTTTTAAAAATTTGTTTTGAAGGAAACAGAAGAAATGTGTGTGATGCTTGTCTCTAATTTGCCTAATAAAGGATATTCTGTAGAAGAAGTTTATGACTTAGCAAAACCATTTGGTGGTTTAAAGGATATCTTGATTTTATCATCTCATAAAAAGGTAAGAGTTGATTAATAGCTGTTCATATCCTCTGCAAGCATGCATGCTTTGAAAAACATTAAATTTACAAAACTAAAAAGAAAAGGTTTAAAAGCAGTATCTCAAAGTAAACTTTCAAGCTAAGGGATTTTAAAATATAAAACACAGATATCCTGTATTTTAG... |
Task1_train_34122 | Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | CATATTGACAGGAATAGGTTGTAGACACAGAAAAAAAATTTATATATGTGAAAGAGACTGACATTTGACTTGAGTCATCCTCATTTTGTTAAAACAGGTTATCCTTTTGGCTCTAATTTAACCTTAAGTGGATGGTCTCTAAGATTAACTTTACTGGTACCAAGTTCTGTTGTCAAACATATTTTATATTTGGTTGTTATTTTAGGTTTTTACCATTCATAGAATTTTTTTCAGTCATTTTACTTTTCTTACCTGGTAGGGGATAGATTTGGGCCTATGTTGTTGGGGCAAGGAGAAATGTTACTAGTTTTAAGCAGAAA... | CATATTGACAGGAATAGGTTGTAGACACAGAAAAAAAATTTATATATGTGAAAGAGACTGACATTTGACTTGAGTCATCCTCATTTTGTTAAAACAGGTTATCCTTTTGGCTCTAATTTAACCTTAAGTGGATGGTCTCTAAGATTAACTTTACTGGTACCAAGTTCTGTTGTCAAACATATTTTATATTTGGTTGTTATTTTAGGTTTTTACCATTCATAGAATTTTTTTCAGTCATTTTACTTTTCTTACCTGGTAGGGGATAGATTTGGGCCTATGTTGTTGGGGCAAGGAGAAATGTTACTAGTTTTAAGCAGAAA... |
Task1_train_34123 | This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Benign | TTAGAGGTCTCCTTCCTTTACTATTTCCTAACCAGATGTAAAATTAGCTTTCCCCCCCTTCTACATCACCTAACCCGTTTCTCATTGGATGTCCTTGCTTTCGTTTTTATTTGCCAGAGTAAATCTAGGATCTCCCTTGTCTGCCAACTTATATTTTGTTTTATACACATAAAATATAAAATTTGGCCAAGTTTTTCCCATTGAAAGAAATATCCCTTTGACCTTGAAATCTCTCTAGCTCCTATCTTTTCTACTTGCTTTTAGAGCAAAACGTCTAGAAAGAACCACCTACTTTTACGTCTTAATTTCCCATGGAACTG... | TTAGAGGTCTCCTTCCTTTACTATTTCCTAACCAGATGTAAAATTAGCTTTCCCCCCCTTCTACATCACCTAACCCGTTTCTCATTGGATGTCCTTGCTTTCGTTTTTATTTGCCAGAGTAAATCTAGGATCTCCCTTGTCTGCCAACTTATATTTTGTTTTATACACATAAAATATAAAATTTGGCCAAGTTTTTCCCATTGAAAGAAATATCCCTTTGACCTTGAAATCTCTCTAGCTCCTATCTTTTCTACTTGCTTTTAGAGCAAAACGTCTAGAAAGAACCACCTACTTTTACGTCTTAATTTCCCATGGAACTG... |
Task1_train_34124 | A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | AGAAGGCAGGAGGAGAAAGGAAGGAGTGGGAGGAAGAGGACCTACCTAAACAGGGCCCTGCACTCCTACATCAATCCTTGGCCACTTATGTCCTGCCACTGGTCTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGGAGTGCAATGGCACATTGTGGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGGGACTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTGCACCACCACAGCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCACGTTGG... | AGAAGGCAGGAGGAGAAAGGAAGGAGTGGGAGGAAGAGGACCTACCTAAACAGGGCCCTGCACTCCTACATCAATCCTTGGCCACTTATGTCCTGCCACTGGTCTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGGAGTGCAATGGCACATTGTGGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGGGACTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTGCACCACCACAGCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCACGTTGG... |
Task1_train_34125 | A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation? | Benign | CATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGC... | CATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGC... |
Task1_train_34126 | A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | CCATCAGCTCCTCTCATCACAAGGAACAAGGAGGAGGTGACAAGAGTTCTTTCTCCCACTCAGGGGAGCCTTTGGCCTTCACCCACCAAGTCCCCAGTATCAGGGACCCCCAATTTGTCTGACTCCCAAATGAAGTCTCCTGCTGGGCTGCAGGACAAGCTGGGTGGCAGGTCAGCAGTCTCTTGGTGAGCCACCTGAATGTCTCACTTCTTGCTTTTGTGAAGACATAAGGATTTGGGAAAGAGATCTTGGGCATGAAATGGGACATCCCACTTCACAGCTATTTGGAGATGACTTGGTCTATGTGGGAGTGAAATAAA... | CCATCAGCTCCTCTCATCACAAGGAACAAGGAGGAGGTGACAAGAGTTCTTTCTCCCACTCAGGGGAGCCTTTGGCCTTCACCCACCAAGTCCCCAGTATCAGGGACCCCCAATTTGTCTGACTCCCAAATGAAGTCTCCTGCTGGGCTGCAGGACAAGCTGGGTGGCAGGTCAGCAGTCTCTTGGTGAGCCACCTGAATGTCTCACTTCTTGCTTTTGTGAAGACATAAGGATTTGGGAAAGAGATCTTGGGCATGAAATGGGACATCCCACTTCACAGCTATTTGGAGATGACTTGGTCTATGTGGGAGTGAAATAAA... |
Task1_train_34127 | Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GCGAGACCCCGTCTCCATTTAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAATATACAAGACAAAGCTGGAGTCGCCCACAGTGGTGGCCTCTGCTCTTGCCAAGGCTTCCTTTCCTTCAGCCATAGAGCTCTTGGATCCCTTTGCTTGAGAACCCTGGGGGAGGCTATGCAGCACCTAGGGATCCGGTAGGACCCTGGGCTTAGAGGGAACAGGCCATGCTTCTAGTCGGTTGACCCACCTGTACGTGACAGCCTGCAGGGCACGGCAGTAGCAGCTGGCCAGCCAGAGCGAGCGGTCGGTGAGGATGTTTGGACAGTG... | GCGAGACCCCGTCTCCATTTAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAATATACAAGACAAAGCTGGAGTCGCCCACAGTGGTGGCCTCTGCTCTTGCCAAGGCTTCCTTTCCTTCAGCCATAGAGCTCTTGGATCCCTTTGCTTGAGAACCCTGGGGGAGGCTATGCAGCACCTAGGGATCCGGTAGGACCCTGGGCTTAGAGGGAACAGGCCATGCTTCTAGTCGGTTGACCCACCTGTACGTGACAGCCTGCAGGGCACGGCAGTAGCAGCTGGCCAGCCAGAGCGAGCGGTCGGTGAGGATGTTTGGACAGTG... |
Task1_train_34128 | A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | GATAGAAGGCCCCATGAGAGCATTTCAGGGAAGCCAGGTTGGCATTACAGTGTTGTAAGGGTTGCAAGGACCAGACCTCAAGGGGCCAGATTCTACCCAGGGGGAAAGGTGGGTTCACAGCAGGGCACAGAAGGCAGGCAGGGGCAGGTACCTTGGAGCAGACACGGGCATTCTCAAGCAGCACCCTTGTCCAGACTGCGGGGTGGCGGGCCACGAAGCGCCAGTCCCGGCAGACCTCGGCAGCATGCAGCAGTGTGCGCGTGTCCAGGTAGGTGAAGATGCAGAAGAGGGCAGCTCGCATCTTCAGGATCTCTGGGCTG... | GATAGAAGGCCCCATGAGAGCATTTCAGGGAAGCCAGGTTGGCATTACAGTGTTGTAAGGGTTGCAAGGACCAGACCTCAAGGGGCCAGATTCTACCCAGGGGGAAAGGTGGGTTCACAGCAGGGCACAGAAGGCAGGCAGGGGCAGGTACCTTGGAGCAGACACGGGCATTCTCAAGCAGCACCCTTGTCCAGACTGCGGGGTGGCGGGCCACGAAGCGCCAGTCCCGGCAGACCTCGGCAGCATGCAGCAGTGTGCGCGTGTCCAGGTAGGTGAAGATGCAGAAGAGGGCAGCTCGCATCTTCAGGATCTCTGGGCTG... |
Task1_train_34129 | Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | TTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGC... | TTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGC... |
Task1_train_34130 | This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Benign | CACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAG... | CACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAG... |
Task1_train_34131 | This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Benign | GAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATC... | GAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATC... |
Task1_train_34132 | Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | TCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACT... | TCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACT... |
Task1_train_34133 | A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | CAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCA... | CAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCA... |
Task1_train_34134 | A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACC... | GGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACC... |
Task1_train_34135 | A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | AGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTA... | AGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTA... |
Task1_train_34136 | A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | GCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTA... | GCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTA... |
Task1_train_34137 | A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | TGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTTGATGGCA... | TGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTTGATGGCA... |
Task1_train_34138 | A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | GCTTCCACCTAGATTTCAGAGGATGTATCAAAAAGTCTGGGTGCCCTGACAGAAGCCTGCCACAGGGGCAGAAACCCACAGAGAACCTCTACAAGGACAGAGCCATGGGAAAACATAGGGTTGGAACCCCATACAGAGTCCCCACTGGGACATTGCCTAGTGGAGCTGTGGGAATGGGGCCAATGCCCTCCAGACAGCAGAAAGGTAGAGTCACCAGCAGCTTGCAACCTCAGCGTGGAAGACCCACAGGCATTCAATCCCAACCTGTGAGAGCAGCCATGTGGGCTGCACCCAGCAAAGCCATAGAGACAGGGCTGCTC... | GCTTCCACCTAGATTTCAGAGGATGTATCAAAAAGTCTGGGTGCCCTGACAGAAGCCTGCCACAGGGGCAGAAACCCACAGAGAACCTCTACAAGGACAGAGCCATGGGAAAACATAGGGTTGGAACCCCATACAGAGTCCCCACTGGGACATTGCCTAGTGGAGCTGTGGGAATGGGGCCAATGCCCTCCAGACAGCAGAAAGGTAGAGTCACCAGCAGCTTGCAACCTCAGCGTGGAAGACCCACAGGCATTCAATCCCAACCTGTGAGAGCAGCCATGTGGGCTGCACCCAGCAAAGCCATAGAGACAGGGCTGCTC... |
Task1_train_34139 | Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Benign | CAGTCTACATTTGTAATTCTTGAATTCATGGCGCAGGCAACTATTACTCTATGTCTTTTAATGTAGTCATGTCCAAACATTTATATATTGAAATAAATATTATTTTATTATAAATTACTTTTATTTTATTTTTTATATTATAGTTAGGGTGTTAATTGGTATTTTTGTTTAAAATATGAAGTAGGTTGTATGTACCTATGAACTTCATTTCAGGATAGTAAAGGGGTCATTACAAAGTATTTGCTATAAAAAGAGAAAATGGAATGTGATAGAGTGGAGAGCAGTGTTCTGCATGGTGAACTCAGATGCCTGAAAGAATA... | CAGTCTACATTTGTAATTCTTGAATTCATGGCGCAGGCAACTATTACTCTATGTCTTTTAATGTAGTCATGTCCAAACATTTATATATTGAAATAAATATTATTTTATTATAAATTACTTTTATTTTATTTTTTATATTATAGTTAGGGTGTTAATTGGTATTTTTGTTTAAAATATGAAGTAGGTTGTATGTACCTATGAACTTCATTTCAGGATAGTAAAGGGGTCATTACAAAGTATTTGCTATAAAAAGAGAAAATGGAATGTGATAGAGTGGAGAGCAGTGTTCTGCATGGTGAACTCAGATGCCTGAAAGAATA... |
Task1_train_34140 | Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | TTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGG... | TTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGG... |
Task1_train_34141 | Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Benign | AAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGA... | AAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGA... |
Task1_train_34142 | A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | AGGATGTGGGAAGGCTGCTCTGACCCCCAAGAGCTGATCCCAAGGCCTGGCAGAAACCTGAGGATGAGAGAGTATAGTGTGGTGGGGAAGCGGTAACCTGGGACTTATGTCACCCCCAGTGCCCCTTCCTTCTCACCTTGGTCCCAGCTCCAGATAAGCGACTGATGAAGTAGTCTGTGACACAAAGATGCCAGCTCCTTCTCACACTCCTGAGGCAGGGATGCTAGTGGGAGAAATGACTCTGGGGCCTGAAAACAAGGTCTCACTTTCCACAACCCCTGCCCACTCAATGATGAGGCAAGAAGGCATGCTTCCTCCAA... | AGGATGTGGGAAGGCTGCTCTGACCCCCAAGAGCTGATCCCAAGGCCTGGCAGAAACCTGAGGATGAGAGAGTATAGTGTGGTGGGGAAGCGGTAACCTGGGACTTATGTCACCCCCAGTGCCCCTTCCTTCTCACCTTGGTCCCAGCTCCAGATAAGCGACTGATGAAGTAGTCTGTGACACAAAGATGCCAGCTCCTTCTCACACTCCTGAGGCAGGGATGCTAGTGGGAGAAATGACTCTGGGGCCTGAAAACAAGGTCTCACTTTCCACAACCCCTGCCCACTCAATGATGAGGCAAGAAGGCATGCTTCCTCCAA... |
Task1_train_34143 | An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Benign | CATTTGCTAGGTTGTCATTGACTCATGCAATCCTTGATCCCTGGGGCAATCGCAGATTCCTCTTCTGTGACCACCTCCCAGCCCCACCTCAAGTCTGGCCCTGAGTTCTCTCTGCTGTTACCTTTTGCAGTGGCCAGATATATACTCCCTTTTTCAGGTCTCTACCAGTCTCTGATCCAACCTGCGCCCACAGCCAGATTGGCCTACCCTAAACAATGGTCTCTTGTCTCTCTTCTCTAAAACCTCCAGGGACCATGCTCTAAAGTACAATGCCTAAGTCCCTACCTGTGGCCCTTTCTCCTCCCCTTTCTCTGTAAATC... | CATTTGCTAGGTTGTCATTGACTCATGCAATCCTTGATCCCTGGGGCAATCGCAGATTCCTCTTCTGTGACCACCTCCCAGCCCCACCTCAAGTCTGGCCCTGAGTTCTCTCTGCTGTTACCTTTTGCAGTGGCCAGATATATACTCCCTTTTTCAGGTCTCTACCAGTCTCTGATCCAACCTGCGCCCACAGCCAGATTGGCCTACCCTAAACAATGGTCTCTTGTCTCTCTTCTCTAAAACCTCCAGGGACCATGCTCTAAAGTACAATGCCTAAGTCCCTACCTGTGGCCCTTTCTCCTCCCCTTTCTCTGTAAATC... |
Task1_train_34144 | This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Benign | TAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCC... | TAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCC... |
Task1_train_34145 | This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Benign | CCTCGTTTTTTTTTCAAGGCAGGATTCAGGACCAAAAGACCCTCAAGCCACTGCATAATAACGTTTAGTTCCAGTGGCCAGGATGGGGGCCCTACAGCTGGCAGTAGTTACTTGAGTAATGATGGTTAGGTCCAAGAGAATGTATACTGAATGCCTAGTGAGGTTAAAGATTAAGACTCAGCATTCTCCCCTGCTCCGAGAAGTCCAGTGGGGTTATGGTGTGTTCCTTCTCGAGTTGCTTCTTGAAATTTCGAAATAAGCCTTGGAAAGGAAATGAGTTCCTTTCCCTGTGGGTTCCTTTCCAAGGCTTATTTCCCCAG... | CCTCGTTTTTTTTTCAAGGCAGGATTCAGGACCAAAAGACCCTCAAGCCACTGCATAATAACGTTTAGTTCCAGTGGCCAGGATGGGGGCCCTACAGCTGGCAGTAGTTACTTGAGTAATGATGGTTAGGTCCAAGAGAATGTATACTGAATGCCTAGTGAGGTTAAAGATTAAGACTCAGCATTCTCCCCTGCTCCGAGAAGTCCAGTGGGGTTATGGTGTGTTCCTTCTCGAGTTGCTTCTTGAAATTTCGAAATAAGCCTTGGAAAGGAAATGAGTTCCTTTCCCTGTGGGTTCCTTTCCAAGGCTTATTTCCCCAG... |
Task1_train_34146 | A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | CAAGAAGAATATGAACAGACAGGCCTTGCTGGGTTTCCCCATTCAGTCTATTACCATTAGACTATTATCATTCCCTTTTTGTCCAATCCCATTTCTTTTTCTTTTTAAGACACAGGGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCATTGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAACTCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTATAGGATCACAATACCCAGCTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAATGGGGTCTCCATCTGT... | CAAGAAGAATATGAACAGACAGGCCTTGCTGGGTTTCCCCATTCAGTCTATTACCATTAGACTATTATCATTCCCTTTTTGTCCAATCCCATTTCTTTTTCTTTTTAAGACACAGGGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCATTGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAACTCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTATAGGATCACAATACCCAGCTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAATGGGGTCTCCATCTGT... |
Task1_train_34147 | A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | TGCTGCAGTCAGTGCCCCACTCTTTGTCCCAAGTAGTTTGGTTCTTTCCTGGCTCCCCCAGTGTTTCCTGTGGTATCAGAATGGAGTAGTCTTCCTGTGAAGATTCCCAGATTAGTGGGGAGATTGAAAGTCTACCTGCAGCTCCCTACTCTCACCTCAGAAACTGGGTCTGGGGAAATTCTGTCGGTGGCATTATGCTGACTTGGGGTAGGGGTGGCGCAGTCTGAAATGACCATTTCTCCTATTTGTTGCAGCTTCTCTCAGTTCTGTGGGCCCAGGGGGCTCCTCCACTTCTCCCCCAAGTTTGGATGAATTCAGGG... | TGCTGCAGTCAGTGCCCCACTCTTTGTCCCAAGTAGTTTGGTTCTTTCCTGGCTCCCCCAGTGTTTCCTGTGGTATCAGAATGGAGTAGTCTTCCTGTGAAGATTCCCAGATTAGTGGGGAGATTGAAAGTCTACCTGCAGCTCCCTACTCTCACCTCAGAAACTGGGTCTGGGGAAATTCTGTCGGTGGCATTATGCTGACTTGGGGTAGGGGTGGCGCAGTCTGAAATGACCATTTCTCCTATTTGTTGCAGCTTCTCTCAGTTCTGTGGGCCCAGGGGGCTCCTCCACTTCTCCCCCAAGTTTGGATGAATTCAGGG... |
Task1_train_34148 | This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | AATTGGTTGAATCAAGATAAGGAAGGTTGAAAATCTGTATTCCTTGTTATATGAAAGTGAAGCAGCTGCTACCTAGTGTATTTTATGCCTCAGGCAATGTCCCCACCACCATAATTACAAGAACATTATGGACTTGGTCAAAAGGATATGGGAGTGAGAACTGAGACAGGCATCTGCCCTGGAGCCCTCCCAAACACCTCTGCTACTGCAGTCCCTGCCCAATAAGGCTCATAATCCCACCCCATAATCAGCTTTGATGCTCCCTGGTGATGGAAATCAGCTCCCGATTGTTCCATTTTTCTAAGAGGTGGAGACAAGGA... | AATTGGTTGAATCAAGATAAGGAAGGTTGAAAATCTGTATTCCTTGTTATATGAAAGTGAAGCAGCTGCTACCTAGTGTATTTTATGCCTCAGGCAATGTCCCCACCACCATAATTACAAGAACATTATGGACTTGGTCAAAAGGATATGGGAGTGAGAACTGAGACAGGCATCTGCCCTGGAGCCCTCCCAAACACCTCTGCTACTGCAGTCCCTGCCCAATAAGGCTCATAATCCCACCCCATAATCAGCTTTGATGCTCCCTGGTGATGGAAATCAGCTCCCGATTGTTCCATTTTTCTAAGAGGTGGAGACAAGGA... |
Task1_train_34149 | Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Benign | AAGTATTTAACAAATGGTAAAGCATAATGATTTACATTTAGGTTATAACTAAACAATACTATATGGAAAGCAAATGCAGGATTATATATCTGCTTCTTTGTAGCTTTTAACTACTAATCTTGGTTCTATGCTGCATAACAGCACAGAATAAATCTATACCTTCTTTGAATACAAACAGCATCTCTCTGTACATCTTTCAAATTAAATATCTCTAATTCCTGCAACAGTTTCCATCTATTTTACTTGAGTTTTTATCCTATTGGAGGTAAGCAGAAAATGCCTCTCTCTCTGTTGCCACATGTTGAAATCCTATTCTTTCC... | AAGTATTTAACAAATGGTAAAGCATAATGATTTACATTTAGGTTATAACTAAACAATACTATATGGAAAGCAAATGCAGGATTATATATCTGCTTCTTTGTAGCTTTTAACTACTAATCTTGGTTCTATGCTGCATAACAGCACAGAATAAATCTATACCTTCTTTGAATACAAACAGCATCTCTCTGTACATCTTTCAAATTAAATATCTCTAATTCCTGCAACAGTTTCCATCTATTTTACTTGAGTTTTTATCCTATTGGAGGTAAGCAGAAAATGCCTCTCTCTCTGTTGCCACATGTTGAAATCCTATTCTTTCC... |
Task1_train_34150 | A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | ACCTTTTCATTAAGGCAGTCAATTAAATTTTCCACATAAATTTTCATGCTTTTATAGAATTTACAATTTAGAGCTTGATTTGATGAACTCTCTAGGTTCTGGATGGTACTCTTTGAGCTTTTGACATCTTGTACGTATTTTTCATACTCCCTCAGGTGTGAGCGGTGAGTTTCCTGTAGTAATGTTAATCTAAATAAATAAAATAAAAATTAGTTTATTTTTCATACTCTTTTAAAAGTAGCAATCTAATGTAAATATTTTCAAAGACCACCAAGGAAACTGACAATCATATAAATCTGGGTTTATAGACTAGATAAGCA... | ACCTTTTCATTAAGGCAGTCAATTAAATTTTCCACATAAATTTTCATGCTTTTATAGAATTTACAATTTAGAGCTTGATTTGATGAACTCTCTAGGTTCTGGATGGTACTCTTTGAGCTTTTGACATCTTGTACGTATTTTTCATACTCCCTCAGGTGTGAGCGGTGAGTTTCCTGTAGTAATGTTAATCTAAATAAATAAAATAAAAATTAGTTTATTTTTCATACTCTTTTAAAAGTAGCAATCTAATGTAAATATTTTCAAAGACCACCAAGGAAACTGACAATCATATAAATCTGGGTTTATAGACTAGATAAGCA... |
Task1_train_34151 | A variant has been detected on Chromosome 2. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | CAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAA... | CAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAA... |
Task1_train_34152 | Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | TTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAAATACTTCAACCAAAACAAAATAGCACAAGAGATTAAAAGCAGAAACACCTATGACAATTCATCTGTCTTCTATTAATATTTTGCCAG... | TTGGCCAGGCTGGGCTCGAACTCCTGATCTCTTGATACACCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCGCAACTAACTTTTAAGAAGGGTTAGTTTATTACTTGTTGAGCTGTGTTATATTAAAGCACAACACCCTCAATGATCTAAAAATGCTATTAAGTACTCGTCTTAATCATGTATCTGTCAGAGGCTGTATTTTCTTCAAATACTTCAACCAAAACAAAATAGCACAAGAGATTAAAAGCAGAAACACCTATGACAATTCATCTGTCTTCTATTAATATTTTGCCAG... |
Task1_train_34153 | Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Benign | AGGAGCCCTCCGTCCAATGCACACAGCCTTCCCCTTCCCTTCTCTGCACCCACCAACTGCCACTACCACCACCTCCTCACTCTTTAGTTCAATAGAAACTGAAATCTCAATGATGGACCTGGAAACCTATGAGGGGTGAGAAGGAGCAATCATCACTCTCAACACAGAAAAAAAAAAAAGGGAAAGCAAGCATTACACAAAAGGGCCATCTGAGAAGAGGCAGCTTTTCTGTCCTGGGTTAACAAATTATTCCCATCTCAGAAATATGCAAACACAGGATCAAATGAGTATCTTCTCCCACTCTCCCCACCCCATCACTG... | AGGAGCCCTCCGTCCAATGCACACAGCCTTCCCCTTCCCTTCTCTGCACCCACCAACTGCCACTACCACCACCTCCTCACTCTTTAGTTCAATAGAAACTGAAATCTCAATGATGGACCTGGAAACCTATGAGGGGTGAGAAGGAGCAATCATCACTCTCAACACAGAAAAAAAAAAAAGGGAAAGCAAGCATTACACAAAAGGGCCATCTGAGAAGAGGCAGCTTTTCTGTCCTGGGTTAACAAATTATTCCCATCTCAGAAATATGCAAACACAGGATCAAATGAGTATCTTCTCCCACTCTCCCCACCCCATCACTG... |
Task1_train_34154 | A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | ATATGGTCTACACTAATACCAAAGGGGGCATCATTACTTCCCAGTGAGGATGAAAGTACATCCCTATTTGGCCTTCTCTGACACCGTGGGAGAATGAGAAGAGGAATTTCAGGAGACTTGTTACACCCTAGCTAGAGTGGAAGTCTGGGCTCCGCACTCAGTGTCTGCTGGTGAGGGTAGGAATAAATACCTCAGGATTTTTCTGTGGTGTTTGGTTAGAGTAGAGCAGTTATTGCCTAAAAGTTTTCTGTCTTGCTGGGCTGCCCCTTTCCTGGGCTGCCCCTTTCCTGGTCCTTTGGATAAAGACAGTAAGCTTTTCC... | ATATGGTCTACACTAATACCAAAGGGGGCATCATTACTTCCCAGTGAGGATGAAAGTACATCCCTATTTGGCCTTCTCTGACACCGTGGGAGAATGAGAAGAGGAATTTCAGGAGACTTGTTACACCCTAGCTAGAGTGGAAGTCTGGGCTCCGCACTCAGTGTCTGCTGGTGAGGGTAGGAATAAATACCTCAGGATTTTTCTGTGGTGTTTGGTTAGAGTAGAGCAGTTATTGCCTAAAAGTTTTCTGTCTTGCTGGGCTGCCCCTTTCCTGGGCTGCCCCTTTCCTGGTCCTTTGGATAAAGACAGTAAGCTTTTCC... |
Task1_train_34155 | With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | CACACAGGATGTAACAATCATATCGGCATGTGCACCTCCAGGCGGTGGCCGCAACCCTGTGACTCCCCGCTTCATCAGACACTTCAGCATGCTGTGCCTCCCAATGCCCTCAGAGCACAGTCTGAAACAGATTTTTCAGGTGAGTGTCGATTTTAACTTAGGCAACAGGAGGAAAAGAAAGCATATTTGTTCCAAGGCTCCCACAATCAAAGTGGTGTCTTGTGTTTCTAAGGAGTCCATCTATCCGTCTCTTTCCTGAGCAGGAAGCAGGTAAATATGGACTCCTGGAGAGTAGCTGGCAGGCATTTGCATCACTGCCT... | CACACAGGATGTAACAATCATATCGGCATGTGCACCTCCAGGCGGTGGCCGCAACCCTGTGACTCCCCGCTTCATCAGACACTTCAGCATGCTGTGCCTCCCAATGCCCTCAGAGCACAGTCTGAAACAGATTTTTCAGGTGAGTGTCGATTTTAACTTAGGCAACAGGAGGAAAAGAAAGCATATTTGTTCCAAGGCTCCCACAATCAAAGTGGTGTCTTGTGTTTCTAAGGAGTCCATCTATCCGTCTCTTTCCTGAGCAGGAAGCAGGTAAATATGGACTCCTGGAGAGTAGCTGGCAGGCATTTGCATCACTGCCT... |
Task1_train_34156 | An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Benign | AGCATCCACATTTTAATGTATATCTAGACATGTATGCCCTGTGTACAAAGAGAAAACATTTGAATCTTGGGATTGTGAGTGATTTTTATTGTCTAGTTGCTTATCTGTAGTTTCTGATTATCCTAAAATTAAGATATTTCTGATAGTGCTTTTAACATTGCTTTTAAAAATCAAACAAGTTATGTAAAAAGTCTCCAAGTATTAAAGCTCCAAAGATCAAGTCATATTGTGTTGCTTCTCTTTAGACAAAAAGTTACTACATTCTGTTGGAAGCCCCAATCAATCTCAAATGTTCTACAATAATGAAGAGTAAACGTAAC... | AGCATCCACATTTTAATGTATATCTAGACATGTATGCCCTGTGTACAAAGAGAAAACATTTGAATCTTGGGATTGTGAGTGATTTTTATTGTCTAGTTGCTTATCTGTAGTTTCTGATTATCCTAAAATTAAGATATTTCTGATAGTGCTTTTAACATTGCTTTTAAAAATCAAACAAGTTATGTAAAAAGTCTCCAAGTATTAAAGCTCCAAAGATCAAGTCATATTGTGTTGCTTCTCTTTAGACAAAAAGTTACTACATTCTGTTGGAAGCCCCAATCAATCTCAAATGTTCTACAATAATGAAGAGTAAACGTAAC... |
Task1_train_34157 | A change on Chromosome 2 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | GGCTGAGGAGACAGTCAAAGGAATAGAGAGGCCTGGCTTTGAGGGCCTCTTCACCACCAGCACAAGATAAGGCAAAGGACCATTTGTCAGAGACACCAAGAAAGGGGAATTTCCATTTGGATGGTCAATAGTGTCCAGTTCTGCCAAGGACAAGACTAAGCTTTGAGAAAAAGCCATGGATTTGGTGATTGGATAACTGGTAACCTTTAGAAAAGTTTAGTTGACAGACAGAGACCGAAGTGAGTTAGTAAAAGTCATGAAGAGAATGAATGGCAACTTAAGGGAAGCAACATACTGGAGAAGTTGAGCAGCGGGATGAA... | GGCTGAGGAGACAGTCAAAGGAATAGAGAGGCCTGGCTTTGAGGGCCTCTTCACCACCAGCACAAGATAAGGCAAAGGACCATTTGTCAGAGACACCAAGAAAGGGGAATTTCCATTTGGATGGTCAATAGTGTCCAGTTCTGCCAAGGACAAGACTAAGCTTTGAGAAAAAGCCATGGATTTGGTGATTGGATAACTGGTAACCTTTAGAAAAGTTTAGTTGACAGACAGAGACCGAAGTGAGTTAGTAAAAGTCATGAAGAGAATGAATGGCAACTTAAGGGAAGCAACATACTGGAGAAGTTGAGCAGCGGGATGAA... |
Task1_train_34158 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | AGGGATGGGTGCCCTGTCCTTCCCTGGGGCTCATGTCTTGGGGCCTGATTCCCCTGTCTCAAGGAAAGGGCAGAAACAGCACCGTGAGGTTCGTCACCACCCCAAATACTTTACCCCCTACCTTCCCCTCCAGCTGTGGGAACAGTTTCAGGACCACTGACATAGAGGCTTCCACAAAGGAGTTTTTGAAGGTCTCATAGTCACTGCCCCGCTTTCCCTTCAGCTCCGCCTGCCACTCCTCAAACCACTCGTAGGCAGTGGGTATGAGCATGATCATGGTGGACCGGCCTGGGGATCAGAGCTGATATTACTACTGCCCG... | AGGGATGGGTGCCCTGTCCTTCCCTGGGGCTCATGTCTTGGGGCCTGATTCCCCTGTCTCAAGGAAAGGGCAGAAACAGCACCGTGAGGTTCGTCACCACCCCAAATACTTTACCCCCTACCTTCCCCTCCAGCTGTGGGAACAGTTTCAGGACCACTGACATAGAGGCTTCCACAAAGGAGTTTTTGAAGGTCTCATAGTCACTGCCCCGCTTTCCCTTCAGCTCCGCCTGCCACTCCTCAAACCACTCGTAGGCAGTGGGTATGAGCATGATCATGGTGGACCGGCCTGGGGATCAGAGCTGATATTACTACTGCCCG... |
Task1_train_34159 | Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | GTAAGAGGCAGAGATGAAGCATTCACAAGTAGTTTGGCTCTCAAGTGTGCTTTCAGTAACTATCCTCTACTGCTTCCCAGCCGCTTTCTCTTCCTTATTATCCATTAGTGTCTGGTAGCATTTCATTTAATCTGCAGGTATATTCTCCCAACAGTTTATTGTCATGTGATGTCCTCAGCCAAGATTGTGAGGCAGAGAGGAGCTGTCCCAACCTACTATACCACCGAGGCTGGAGAGATCATATTTTTGGTATTAAACTGGAGTCTCTCCATCCTTCACATTGTTGATGTCCTCTGTAGCAAACCGGAAAAGTCAGTGAC... | GTAAGAGGCAGAGATGAAGCATTCACAAGTAGTTTGGCTCTCAAGTGTGCTTTCAGTAACTATCCTCTACTGCTTCCCAGCCGCTTTCTCTTCCTTATTATCCATTAGTGTCTGGTAGCATTTCATTTAATCTGCAGGTATATTCTCCCAACAGTTTATTGTCATGTGATGTCCTCAGCCAAGATTGTGAGGCAGAGAGGAGCTGTCCCAACCTACTATACCACCGAGGCTGGAGAGATCATATTTTTGGTATTAAACTGGAGTCTCTCCATCCTTCACATTGTTGATGTCCTCTGTAGCAAACCGGAAAAGTCAGTGAC... |
Task1_train_34160 | A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | CACCTGTTTAGTGCCCCCCAGATGACAGAGTACTCACAGCTTCAGACCCTGGAACATTAGCAATAATGTAGTCTGGCAATTTTAAATTTACAGTTCTGTTAATGAACTGGTTGTGAGGGGTACCTGAACCCTCTGAAAGCAGATGCAAAAATCTTTTTTTTTTTTTGAAATGGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCCACCTCCCGGGCTCAAGCCATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGACTACAGGTTTGTGCCACCATGCCCAGCTAAGTTTT... | CACCTGTTTAGTGCCCCCCAGATGACAGAGTACTCACAGCTTCAGACCCTGGAACATTAGCAATAATGTAGTCTGGCAATTTTAAATTTACAGTTCTGTTAATGAACTGGTTGTGAGGGGTACCTGAACCCTCTGAAAGCAGATGCAAAAATCTTTTTTTTTTTTTGAAATGGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCCACCTCCCGGGCTCAAGCCATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGACTACAGGTTTGTGCCACCATGCCCAGCTAAGTTTT... |
Task1_train_34161 | A mutation on Chromosome 2 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | GCTCACCGCAACCTCCACCTCCTGGGTTCAAGAGATCCTCCTGCATCAGCCTGCCGAGTAGCTGGGATTACAGGCATGTGCCACCAGGCCCGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAGCCACGCCCAGCACCTCTTTATTTTTCTTCCCATCACATATCTCCTATGTTTAAACGTCTCTTAACCACCTATCTCCACCTACTAGAAAGTGAGCTTCATTAGG... | GCTCACCGCAACCTCCACCTCCTGGGTTCAAGAGATCCTCCTGCATCAGCCTGCCGAGTAGCTGGGATTACAGGCATGTGCCACCAGGCCCGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAGCCACGCCCAGCACCTCTTTATTTTTCTTCCCATCACATATCTCCTATGTTTAAACGTCTCTTAACCACCTATCTCCACCTACTAGAAAGTGAGCTTCATTAGG... |
Task1_train_34162 | A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | GCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCA... | GCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCA... |
Task1_train_34163 | The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | AGTGGTTCTTAAACCTGCTTCACCTGCATAATTTATACAAGTGCCATTGCCCAGGCCCCACCACAGATCAGTTAAATCAGAATCTTCGAAGGTATCAGACACGGGTGTTTCTAAAGCTCCTCCGCGCCCATTCTCTCCTCTGGGAATTCATGTGTAGCCAGGAATGAAAAGGTCTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCT... | AGTGGTTCTTAAACCTGCTTCACCTGCATAATTTATACAAGTGCCATTGCCCAGGCCCCACCACAGATCAGTTAAATCAGAATCTTCGAAGGTATCAGACACGGGTGTTTCTAAAGCTCCTCCGCGCCCATTCTCTCCTCTGGGAATTCATGTGTAGCCAGGAATGAAAAGGTCTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCT... |
Task1_train_34164 | Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Benign | CTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCTAACACATAAGAAATGCGCAGGAATCAAACGCAAACTGGTGAACCAACTAGAGGGCCGCGGGGGCAGAAGTGTCCGGCGGGGATCCGGACAGCGCATCCGGAAGCGCCATGGGCCAACGCTCGCAGGAACCTGAACCCCTGGGCCAGCGCCGCCTTTGCTCGCAGAGGCCTCTA... | CTTAGTACAAGCCAGCAGTTTTACAGAAGCTAGGGATAGCAACGGGCTGAAGGTAACAGTCCCATGAGCTGGTTGAGGCCCCAGGTTCTCCGGCAAAGAGATCTCTCTCAGTTGGGGAGGCTTGCCCCACCCTTTATTATTATGCCTAACACATAAGAAATGCGCAGGAATCAAACGCAAACTGGTGAACCAACTAGAGGGCCGCGGGGGCAGAAGTGTCCGGCGGGGATCCGGACAGCGCATCCGGAAGCGCCATGGGCCAACGCTCGCAGGAACCTGAACCCCTGGGCCAGCGCCGCCTTTGCTCGCAGAGGCCTCTA... |
Task1_train_34165 | This sequence change occurs on Chromosome 2. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | TTTTTTTTTTTCTTTTAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCAAGTAGCTGGGATAACAGGCATGCACTACCACATCCAGCTAATTTTGTATTTTTTTTAGTAGATATGTGGTTTCACCATGTTAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCAAATTTTTATATTTTTTATAGAGA... | TTTTTTTTTTTCTTTTAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCAAGTAGCTGGGATAACAGGCATGCACTACCACATCCAGCTAATTTTGTATTTTTTTTAGTAGATATGTGGTTTCACCATGTTAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCAAATTTTTATATTTTTTATAGAGA... |
Task1_train_34166 | A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | AGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCT... | AGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCT... |
Task1_train_34167 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | GGTTTTGTTGAATTCATGTCTGGCCAGGAGGGCTACAGGTATCTGGCAGACTCCTCCAGGAGGATCCTCTGGGGTCTCACCCTCCAAGGAGCCTGGGGCTGCAGAACCCAAATAGGCAGACTCCCCTGGGAGTTCCTCAATAGGAGAGGGGCAAGTGCAGGGCTGGGAAAGTACTGGGGGTGTGGGAGGCTGTTTCTGGGGTGTCTCAGAGCCTCTAAGACAAGCAAAAGGGTGGGCAGGGGCCAGGCAGCCAGTTCAGGCCTTCAGTGTATCCACGCTCTGGGAAGAGATCACGGACATTCCTGCCGGCCTCAGAAACA... | GGTTTTGTTGAATTCATGTCTGGCCAGGAGGGCTACAGGTATCTGGCAGACTCCTCCAGGAGGATCCTCTGGGGTCTCACCCTCCAAGGAGCCTGGGGCTGCAGAACCCAAATAGGCAGACTCCCCTGGGAGTTCCTCAATAGGAGAGGGGCAAGTGCAGGGCTGGGAAAGTACTGGGGGTGTGGGAGGCTGTTTCTGGGGTGTCTCAGAGCCTCTAAGACAAGCAAAAGGGTGGGCAGGGGCCAGGCAGCCAGTTCAGGCCTTCAGTGTATCCACGCTCTGGGAAGAGATCACGGACATTCCTGCCGGCCTCAGAAACA... |
Task1_train_34168 | An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Benign | GTCCAAGGCAGAGTTTGAGAAGCTAGTTCCCCAAGAGGCCTGGGTCAGGACTGATAAATCCCAGATCTGCTACTTCCAAGCTGCATGGCCTTGGGCAAGTCACTTCCACTTTCTGAGCCTCTGTTATCTTATCTTTGAAATGTGATGGATAATAGTCCCTATCTTGCAAGTTGTCAAACCCTTTTTTTTTTTTTTTCCTTGAGATAGGATCTTACTCTGAGACCCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGC... | GTCCAAGGCAGAGTTTGAGAAGCTAGTTCCCCAAGAGGCCTGGGTCAGGACTGATAAATCCCAGATCTGCTACTTCCAAGCTGCATGGCCTTGGGCAAGTCACTTCCACTTTCTGAGCCTCTGTTATCTTATCTTTGAAATGTGATGGATAATAGTCCCTATCTTGCAAGTTGTCAAACCCTTTTTTTTTTTTTTTCCTTGAGATAGGATCTTACTCTGAGACCCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGC... |
Task1_train_34169 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | GCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGCTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATG... | GCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGCCCAAGCAATTCTCCTGTCTAAGCCTCCTGAGTACCTGGGGCTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATG... |
Task1_train_34170 | A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | CTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGC... | CTCCAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTACTTTTGTAGAAACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGC... |
Task1_train_34171 | A variant has been detected on Chromosome 2. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | TCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGCACTGCAGGCTCGCACTTAGCCCTGGATACCCAGATTCATCCTCCTCCCCTGGGATGGCATAGAAGAGACTTTAAAACCAA... | TCCAACTTCTGAGCTGAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGTGGGATTACAGGCATGAGCCACTGCACCTGGCTGCTGAAGCTTTTTAAAAGAGCTGAGGGCTGGGATGTACTTAGCTCCACGTCCAGCACTGAGTAAATGCTTAACGAATGACTGTGTTACTACCAAGAATTATTGTTTCACTCTCCCTCCTTCCCTCTCCTCTGCTGCCCCAAACTACTCAGCATCCTGGCACTGCAGGCTCGCACTTAGCCCTGGATACCCAGATTCATCCTCCTCCCCTGGGATGGCATAGAAGAGACTTTAAAACCAA... |
Task1_train_34172 | A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless? | Benign | TGCTGGCTTTTAGTGTCCACCTTCCTTAAGGAGTAACAGTCACAGAGAAGGGACCAGCAAGGAGTGAAGCCCTGTTCTGAGCCTCGGAAGGGAGCGGCTGGGAAGCAGTCCTCTGGCAAGGACATCTGAGGGCCTACTAGTTTGACCCCTTCTTTCCAGAATCTCCAGTGGAATGGCACTGATGACTGAGGGTCTGGGGGGTCTACCTCTGCCCCTTGCCAATAACCGTGGGCACCTGCAAAGCTCTCACCTGGTGCCAGGCACTGCTCTGAGTGCCTTGCGCATACACGCTTTTCACACCGCCTGGGGAGGAAGGTACG... | TGCTGGCTTTTAGTGTCCACCTTCCTTAAGGAGTAACAGTCACAGAGAAGGGACCAGCAAGGAGTGAAGCCCTGTTCTGAGCCTCGGAAGGGAGCGGCTGGGAAGCAGTCCTCTGGCAAGGACATCTGAGGGCCTACTAGTTTGACCCCTTCTTTCCAGAATCTCCAGTGGAATGGCACTGATGACTGAGGGTCTGGGGGGTCTACCTCTGCCCCTTGCCAATAACCGTGGGCACCTGCAAAGCTCTCACCTGGTGCCAGGCACTGCTCTGAGTGCCTTGCGCATACACGCTTTTCACACCGCCTGGGGAGGAAGGTACG... |
Task1_train_34173 | Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Benign | ATTTACCTGAAGGGCCAGGGCCCAGGGCCACGTGGGGGCACGTTCTATGTGAATGGCTCCCCTGGAGTTGGGCAACCAGGCACCTTGTGTGGGGCTTGTTAACAATGTACGTTCCTGAGTCCTTCCCCCAGCAGTGTGCAGTCTCACAGGCATCCCCAGGAACGTGGATGCAGGAGTTGGCAGAGGAATAAATGGAGATCCTACCAGGCCTGGGCACCAAAGAAACCAGCTGGGCTCTGGAAATTCTAACCCTGATCCCCACTTTAATGAGACCCTGTCCCTCTCTCACACAGACACACTCTCTCATTCACACACACTCA... | ATTTACCTGAAGGGCCAGGGCCCAGGGCCACGTGGGGGCACGTTCTATGTGAATGGCTCCCCTGGAGTTGGGCAACCAGGCACCTTGTGTGGGGCTTGTTAACAATGTACGTTCCTGAGTCCTTCCCCCAGCAGTGTGCAGTCTCACAGGCATCCCCAGGAACGTGGATGCAGGAGTTGGCAGAGGAATAAATGGAGATCCTACCAGGCCTGGGCACCAAAGAAACCAGCTGGGCTCTGGAAATTCTAACCCTGATCCCCACTTTAATGAGACCCTGTCCCTCTCTCACACAGACACACTCTCTCATTCACACACACTCA... |
Task1_train_34174 | This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Benign | TACATAAAGGAACTTGTCTAGCTTTGTACAGGTCCCGCGCAGCAACACTTTCTCAGAAGGCTCCTGGGGCTACCCCAGCCTCTGCGTTCCTCAGCCTGAGCCTGCTCTACTGTTGCTGATGCACTTACCACCCATCACCGTTCAACAGAGCATACATATACTTGTCTATCTATTTACTGTCTGTCTCCACCCCTGGACACTGCTTTATATGGGAGCACATTAGTCTGTGCTTCACTGCTGGTCTCCAGCTCCTTGCTCCTGTGGCACCTGTCAACAGTGCTCTATGGGAAGTGTGTGATCCAAGGGGCCAGAGGCAGTTC... | TACATAAAGGAACTTGTCTAGCTTTGTACAGGTCCCGCGCAGCAACACTTTCTCAGAAGGCTCCTGGGGCTACCCCAGCCTCTGCGTTCCTCAGCCTGAGCCTGCTCTACTGTTGCTGATGCACTTACCACCCATCACCGTTCAACAGAGCATACATATACTTGTCTATCTATTTACTGTCTGTCTCCACCCCTGGACACTGCTTTATATGGGAGCACATTAGTCTGTGCTTCACTGCTGGTCTCCAGCTCCTTGCTCCTGTGGCACCTGTCAACAGTGCTCTATGGGAAGTGTGTGATCCAAGGGGCCAGAGGCAGTTC... |
Task1_train_34175 | This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | AACACTGATGACATAATAAGAAATGAACAGTTAACATTTACATAGCACATATTACACAGCAGGTACCGCTCTCAGTGCTTCTCTTGGAATACTCTATTTAATCTTCTGACCACTTCAGAATAAAAACCAAAAAACATTTTTAAATAAGCCTATGACTATAAAAATTAAAAAGTGGGAGTATTAAGTTATCTCAAAATTTTTCCCAAGCAGAGCTTGGGTAGGGCAGAGCTGAGGAAAGAATTCTACCTGGGGGGATCTGGGTGGACAGCCAGGAGTAGCCTGCAGGAGGCGCTCATGTTTTGCTGAATTCTTGCAGTTTT... | AACACTGATGACATAATAAGAAATGAACAGTTAACATTTACATAGCACATATTACACAGCAGGTACCGCTCTCAGTGCTTCTCTTGGAATACTCTATTTAATCTTCTGACCACTTCAGAATAAAAACCAAAAAACATTTTTAAATAAGCCTATGACTATAAAAATTAAAAAGTGGGAGTATTAAGTTATCTCAAAATTTTTCCCAAGCAGAGCTTGGGTAGGGCAGAGCTGAGGAAAGAATTCTACCTGGGGGGATCTGGGTGGACAGCCAGGAGTAGCCTGCAGGAGGCGCTCATGTTTTGCTGAATTCTTGCAGTTTT... |
Task1_train_34176 | Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | TTTACACATGGAAAAAGAGTAACAAAGGAAAAAGCCTGTTAATGATGAAGACAGACAAAAGAAAGCAACTAAACAAAGAATATTTTTTAATTGCTTTGAAGAGTGGTAGAAGACGTGTGAGCAGGAAAAAGATTACAGTTTTAAACAAAAAGATGAAAGGTCACAGTGATCAAGAACAGAACTGAGTTAAAATACATATATATATATATATTTTTTGCACACTTTGGGAGGCCAAGACCAACCTGGCCAACACAGCAAGATCCCATCTCTATCAATCACTCAATCAATTTTTTGTGTGTGTAGTATATTTTTTTTTTTTT... | TTTACACATGGAAAAAGAGTAACAAAGGAAAAAGCCTGTTAATGATGAAGACAGACAAAAGAAAGCAACTAAACAAAGAATATTTTTTAATTGCTTTGAAGAGTGGTAGAAGACGTGTGAGCAGGAAAAAGATTACAGTTTTAAACAAAAAGATGAAAGGTCACAGTGATCAAGAACAGAACTGAGTTAAAATACATATATATATATATATTTTTTGCACACTTTGGGAGGCCAAGACCAACCTGGCCAACACAGCAAGATCCCATCTCTATCAATCACTCAATCAATTTTTTGTGTGTGTAGTATATTTTTTTTTTTTT... |
Task1_train_34177 | A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | CTTCCTCCCAGGTTCAAGTGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACACCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCTGGCTGGAGTATTTTTCTTAACCAACTTTATTGAGGTAGAATTTACATGCCATAAAATTACCCATTTTATGTGTACAGCTTTATGTTTTTTTATTAATTTAGCAAGCTGT... | CTTCCTCCCAGGTTCAAGTGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACACCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCTGGCTGGAGTATTTTTCTTAACCAACTTTATTGAGGTAGAATTTACATGCCATAAAATTACCCATTTTATGTGTACAGCTTTATGTTTTTTTATTAATTTAGCAAGCTGT... |
Task1_train_34178 | A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | ACAATGTGTCAAAAGGTTTGGAGAACATTGATCAAGGAAACATTTTTCTGATTGATGAATAAACTAACTCTCAGTTATGGTCATCTACCCCTGCTAGTAGGTTACACAGTGTATTATATAGTACATGCAGTGTGTTATATAAAATAAAAAAAAAACCCAGACAGTAATTGCAATGAATCGACCATATACATCTGTCTCTTGTGTGTCATATCTGTGTTTTTTGTCCCTTGGATTTGGATTGTGATTTCCCCATCCCCAGTATTTAGGATACAGAGTGTTTTTTACTTGGATTGACCAGCTGTTTGTTTGCTTACTTTTTT... | ACAATGTGTCAAAAGGTTTGGAGAACATTGATCAAGGAAACATTTTTCTGATTGATGAATAAACTAACTCTCAGTTATGGTCATCTACCCCTGCTAGTAGGTTACACAGTGTATTATATAGTACATGCAGTGTGTTATATAAAATAAAAAAAAAACCCAGACAGTAATTGCAATGAATCGACCATATACATCTGTCTCTTGTGTGTCATATCTGTGTTTTTTGTCCCTTGGATTTGGATTGTGATTTCCCCATCCCCAGTATTTAGGATACAGAGTGTTTTTTACTTGGATTGACCAGCTGTTTGTTTGCTTACTTTTTT... |
Task1_train_34179 | A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation? | Benign | AGAAATGAGGAAGCAATATCTGTAGGTGGTAACTGTTACTAACTTGTAGAGGAAGAAAATGAGTACGAAATGTAAAGTTTCACTAGAAAGTTTAAAGTAGGTACAAGGTTGACAGAGCAAGTAGTTTCAAGGGAAGGATCTCTTCTGGGAAGTGGTGGTGGCCTGCGTAGGCAGGCAGTTGATACAGCCTTAAGATGTAGGTCAGAGAGACTGTGGTATAGAAAAGTAGGTTTGGAAGGTGGGAGAGTGGCTGAGCACACTGGTTCACTGGGAAAAAGTAGTCAGTCTGGGATAGAGCTTGGAGGATGGCCATGTGGCAG... | AGAAATGAGGAAGCAATATCTGTAGGTGGTAACTGTTACTAACTTGTAGAGGAAGAAAATGAGTACGAAATGTAAAGTTTCACTAGAAAGTTTAAAGTAGGTACAAGGTTGACAGAGCAAGTAGTTTCAAGGGAAGGATCTCTTCTGGGAAGTGGTGGTGGCCTGCGTAGGCAGGCAGTTGATACAGCCTTAAGATGTAGGTCAGAGAGACTGTGGTATAGAAAAGTAGGTTTGGAAGGTGGGAGAGTGGCTGAGCACACTGGTTCACTGGGAAAAAGTAGTCAGTCTGGGATAGAGCTTGGAGGATGGCCATGTGGCAG... |
Task1_train_34180 | Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | TGGATTAGTATCTACTATGTTCGTAACTGTTTTCTATTTGTTACAGTTGTTTTTTGTCTCTTCTTTCCCCTGTCCCGTCCATTGTAATGACTGTTTATCAACGTTTTCCCAAAGATTGCCTGAGCTCTCAACCAGTATCATGTCTATCTCTGTGTGCAGCAAAATATACTTCCTCATACCTGTGCATAATAAGGCAGGTGCGAAGGTGTTCATGCAGCACTGCCTTTAAAGTGGGAAAACCCAGTCTTCATCAATGGGGCAATAGGAATTTAAATTATGGTTCACCGACCTACAGGAATACCAGGAGGCAGTCAAACATA... | TGGATTAGTATCTACTATGTTCGTAACTGTTTTCTATTTGTTACAGTTGTTTTTTGTCTCTTCTTTCCCCTGTCCCGTCCATTGTAATGACTGTTTATCAACGTTTTCCCAAAGATTGCCTGAGCTCTCAACCAGTATCATGTCTATCTCTGTGTGCAGCAAAATATACTTCCTCATACCTGTGCATAATAAGGCAGGTGCGAAGGTGTTCATGCAGCACTGCCTTTAAAGTGGGAAAACCCAGTCTTCATCAATGGGGCAATAGGAATTTAAATTATGGTTCACCGACCTACAGGAATACCAGGAGGCAGTCAAACATA... |
Task1_train_34181 | A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TTGTGCTGACTTCTCAAAGCTGGAGCAAACGGAAAACACCTGGGTCTGGGGGCAGGGCATCTAAGGCCAATTAACATACACCAAAAGGAAAAACCCCATCTCCCCACACTGAGTAACCAAGGATCAAAGGCTACTCTCCCTACAACCCTCCCCCTTCCACTGCATCTCAGATGGAAAGGGAGACGGCCCTGGATTGACCACAGACCAAGCACGGGCCATCCCTTCATCCGCATAGGGCGTCAATTCACCTCAGCCTTTCATTAGCCATGGACCAAATCCTTCACCCAGATAAGGGGTAGCCAACAGGTACCTCAAAAGGG... | TTGTGCTGACTTCTCAAAGCTGGAGCAAACGGAAAACACCTGGGTCTGGGGGCAGGGCATCTAAGGCCAATTAACATACACCAAAAGGAAAAACCCCATCTCCCCACACTGAGTAACCAAGGATCAAAGGCTACTCTCCCTACAACCCTCCCCCTTCCACTGCATCTCAGATGGAAAGGGAGACGGCCCTGGATTGACCACAGACCAAGCACGGGCCATCCCTTCATCCGCATAGGGCGTCAATTCACCTCAGCCTTTCATTAGCCATGGACCAAATCCTTCACCCAGATAAGGGGTAGCCAACAGGTACCTCAAAAGGG... |
Task1_train_34182 | A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | TGCCCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTGCACTACTATGCCCGGCCGAGTCTATGATCTTTGGAAGATGAGGTCTGACTTTGGCTCCTCGCTGCAGTTAGAGGCTGCAAGCTGCAGCAGGGGCTGAGGAACCCAAGGCCACACCCAGGTTATACACTTACTGTTTCATGAAACGAAGCCGGGCTCTCCTCCGCCGGCCTGGAAGAGGAAAGCAAGGGCGCCAGTCAGTGTGGGCTGTGG... | TGCCCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTGCACTACTATGCCCGGCCGAGTCTATGATCTTTGGAAGATGAGGTCTGACTTTGGCTCCTCGCTGCAGTTAGAGGCTGCAAGCTGCAGCAGGGGCTGAGGAACCCAAGGCCACACCCAGGTTATACACTTACTGTTTCATGAAACGAAGCCGGGCTCTCCTCCGCCGGCCTGGAAGAGGAAAGCAAGGGCGCCAGTCAGTGTGGGCTGTGG... |
Task1_train_34183 | Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance. | Benign | TCTAAGTTCATCAGATCTTCTCTTTTGGTTTTTATTTTTAAATTAATTAAATATTATTATTCTTATTATTTGAGACAGAGTCTGCTCTGTCACCCAGGCTGGAGTGCACTGGCACGATCCCAGCTCACTGCAACCTCCACCTCCCACGTTCAAGCAATTCTGGTGCCTCAGCCATCCAAAGAAGCTGGGATTACAGGCGTGCACCACCATACCCAGTTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCACCCATCTGGGCCTCCCAGTGTGC... | TCTAAGTTCATCAGATCTTCTCTTTTGGTTTTTATTTTTAAATTAATTAAATATTATTATTCTTATTATTTGAGACAGAGTCTGCTCTGTCACCCAGGCTGGAGTGCACTGGCACGATCCCAGCTCACTGCAACCTCCACCTCCCACGTTCAAGCAATTCTGGTGCCTCAGCCATCCAAAGAAGCTGGGATTACAGGCGTGCACCACCATACCCAGTTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCACCCATCTGGGCCTCCCAGTGTGC... |
Task1_train_34184 | A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | ACACATCTACAGCCTAAAGCAGAGCTGCCTGGGCCAATGCTATACCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCA... | ACACATCTACAGCCTAAAGCAGAGCTGCCTGGGCCAATGCTATACCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCA... |
Task1_train_34185 | Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Benign | AAGACTCCATCTCAAAAAAAAAAAACTAAACTGTGATTTGAGGCAGCTGAGGAACTAAGAGCCCAGGAAGAAAGGACAGTAATGAAAAAGCCAACAAATGAGACCAGTATTTAGTGGTATTTCCCCTATAGGCAATTATTTATTCAAAAATACAGGAACAGCATTTATTTGCTTAACTGCAGATATGCAAACAAAAAATTTAAATGGTCTTAGTTACTATCTACATGCAGATGCTTCCAATCTTAATCTCTAGTCATGACCACTGATCCTTTTTTGATTCCTTTAATTCAATTTATATATCTCTAAGTGAATATCTTGTC... | AAGACTCCATCTCAAAAAAAAAAAACTAAACTGTGATTTGAGGCAGCTGAGGAACTAAGAGCCCAGGAAGAAAGGACAGTAATGAAAAAGCCAACAAATGAGACCAGTATTTAGTGGTATTTCCCCTATAGGCAATTATTTATTCAAAAATACAGGAACAGCATTTATTTGCTTAACTGCAGATATGCAAACAAAAAATTTAAATGGTCTTAGTTACTATCTACATGCAGATGCTTCCAATCTTAATCTCTAGTCATGACCACTGATCCTTTTTTGATTCCTTTAATTCAATTTATATATCTCTAAGTGAATATCTTGTC... |
Task1_train_34186 | This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Benign | GAAGGGACCCTGAGGTGATGGCACTGTTTAGTGTCTTGACTGTGTAGGTGGATACATGAAGCTACATAGGTGATAGCATTGTATATAATTAAACACACATACACATTCATGAGTGTAAGTAAAACGGAAGAAATCTGAATGATACAGGTGGGTTAATATTCTGGCTGTGATATTAGTTCTCTAAAATGTTACCATTGGAGAAAACTGGGCAAAATGTACAAGGGATCTCTTTGTATTGTTTTCCAACTGCCTGTGAATCTGCAATTATCTCAATTAAAATTTCAATTAAAAAAAATGAGGAGAGGGCCTGTGCTTTGCCC... | GAAGGGACCCTGAGGTGATGGCACTGTTTAGTGTCTTGACTGTGTAGGTGGATACATGAAGCTACATAGGTGATAGCATTGTATATAATTAAACACACATACACATTCATGAGTGTAAGTAAAACGGAAGAAATCTGAATGATACAGGTGGGTTAATATTCTGGCTGTGATATTAGTTCTCTAAAATGTTACCATTGGAGAAAACTGGGCAAAATGTACAAGGGATCTCTTTGTATTGTTTTCCAACTGCCTGTGAATCTGCAATTATCTCAATTAAAATTTCAATTAAAAAAAATGAGGAGAGGGCCTGTGCTTTGCCC... |
Task1_train_34187 | Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | GGGAACTTCCACTGAGCCTCCTCTGTCCACTTCTGGCGCCTCTCACTAAGCCCTTTGCTCAGCCTCCCACAGGAGGAAAAGTTTATTGGGCGGGTCAGTGTCGACCTTTCTGCACCTGTCTGCTGGTGGGCTGGTACTGTGGCTGTGCTTGTGGGTATAGCTCTCCTTTTCTGCCCAGTCTTCCTGCTCCCTGTCCCCACAGAGAGCACCCTCAAGGCCAGCCCACTGCACATCCTCTGGCTCCAGCTCCTTGCCCGTGTGCCTGACTGGGAAAGGGCATTCCAGGGCCTTCCTGCAGATCTAGCCACACCTGGCTTTCC... | GGGAACTTCCACTGAGCCTCCTCTGTCCACTTCTGGCGCCTCTCACTAAGCCCTTTGCTCAGCCTCCCACAGGAGGAAAAGTTTATTGGGCGGGTCAGTGTCGACCTTTCTGCACCTGTCTGCTGGTGGGCTGGTACTGTGGCTGTGCTTGTGGGTATAGCTCTCCTTTTCTGCCCAGTCTTCCTGCTCCCTGTCCCCACAGAGAGCACCCTCAAGGCCAGCCCACTGCACATCCTCTGGCTCCAGCTCCTTGCCCGTGTGCCTGACTGGGAAAGGGCATTCCAGGGCCTTCCTGCAGATCTAGCCACACCTGGCTTTCC... |
Task1_train_34188 | A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Benign | TAGCTTTGCTGAATTGGCCTGGGAATGCTGCCCCTGGAAGGCATTGGACAGAACAGGGACAGTCCTGTTGCGTGAGGGGCATGGGTATGTGCTCATCAGGCCAGCTCCTTCCATGACCTGCTCAGAGCCCCGTGCCAGCCCCTCTGTCCTCTGTTCCTGGACAGTTGTTCCATATCCTCCTTCCCAGTGCCCCAGGTGTGATATTCCTTCCACCCAGGGAAGGGCATTTGAAAAATATTTTCTTTCGCTGTACCTTACTGCCTTGCTCGCTCCTGCCCTCACTCCTGCGATGGTTTCTTTGGCAGCTCAGTCGTAGCGTT... | TAGCTTTGCTGAATTGGCCTGGGAATGCTGCCCCTGGAAGGCATTGGACAGAACAGGGACAGTCCTGTTGCGTGAGGGGCATGGGTATGTGCTCATCAGGCCAGCTCCTTCCATGACCTGCTCAGAGCCCCGTGCCAGCCCCTCTGTCCTCTGTTCCTGGACAGTTGTTCCATATCCTCCTTCCCAGTGCCCCAGGTGTGATATTCCTTCCACCCAGGGAAGGGCATTTGAAAAATATTTTCTTTCGCTGTACCTTACTGCCTTGCTCGCTCCTGCCCTCACTCCTGCGATGGTTTCTTTGGCAGCTCAGTCGTAGCGTT... |
Task1_train_34189 | A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation? | Benign | TGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCCTGCCACCACACCTTGCTAATTTTTTGTATTTAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTACGATTCAACATTTCAAAGCAAAAATTTTATCCAAAAGATCTAGGATTGGGGGTGGGTGGGTGTGAGAGAGGACACTGAAAACAAGGGAGCCCTAATAAACCA... | TGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCCTGCCACCACACCTTGCTAATTTTTTGTATTTAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTACGATTCAACATTTCAAAGCAAAAATTTTATCCAAAAGATCTAGGATTGGGGGTGGGTGGGTGTGAGAGAGGACACTGAAAACAAGGGAGCCCTAATAAACCA... |
Task1_train_34190 | A variant affecting Chromosome 2 has been observed. Determine if it's benign or associated with disease. | Benign | AACCTCCAAAGTTTGAAAGATTTGATACTCATCAACATTCTCAAGAGGCAGAAGGGCAAGGTGCTTCCTTATGTAGTTTCTCCATGACTGTCCTTCCCCACTTTCCCAGTACTGACTGGAAAGAAAAACAAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCC... | AACCTCCAAAGTTTGAAAGATTTGATACTCATCAACATTCTCAAGAGGCAGAAGGGCAAGGTGCTTCCTTATGTAGTTTCTCCATGACTGTCCTTCCCCACTTTCCCAGTACTGACTGGAAAGAAAAACAAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCC... |
Task1_train_34191 | This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Benign | ATATTTGTCTTTCTGTGTCTGGCTTATTTCTAAGTGCACTTTTAATTAACATTAAATGTTTCATGGGTAGTGCAAATATGTTATGATAATAGTAGCTATTAATCAAAATTCTATGTATTACTGCTGTTATATAATTGTGTGGCTTAATAAATCGAAATTAAATTGAAGTATAATTAATTTTAACTCTCCAGCCTGAGTATTAAAACAGGAACTACTGATGCTTAGGCAGTAAGCACTGTGAGTAAATCATTACAAAATAAAAGCATACTCATAAACATTGTAACAAAACATATCAAGGAGTTATTATAATTCTCCCAAGA... | ATATTTGTCTTTCTGTGTCTGGCTTATTTCTAAGTGCACTTTTAATTAACATTAAATGTTTCATGGGTAGTGCAAATATGTTATGATAATAGTAGCTATTAATCAAAATTCTATGTATTACTGCTGTTATATAATTGTGTGGCTTAATAAATCGAAATTAAATTGAAGTATAATTAATTTTAACTCTCCAGCCTGAGTATTAAAACAGGAACTACTGATGCTTAGGCAGTAAGCACTGTGAGTAAATCATTACAAAATAAAAGCATACTCATAAACATTGTAACAAAACATATCAAGGAGTTATTATAATTCTCCCAAGA... |
Task1_train_34192 | Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | CCATAAACAGAGATGCCTTCTAAAATGCATTTAAATGAACATAATAGCCATGCTGAAATGGAATGAGGTTATTTACTAACATAAGTAATTTTGGACTTGAGAACTTGAACTCTTCACCCTCAGTTTAAAGAGAAACCAAGGACTTAAAAAATAGAGAATCCTGGTCCCTGGATTTCACATTCATGAAGAAATGCACAGTCAATTTTTAAGATGCCTTCTTTGTATTCTAGAACTGAGCAAATTAGTGATTACACTCTACATAATGGGAGCTATGATTGTCTTTAATAGAGATAAGAATTAGAAATAGGAAAAGGTAGCTG... | CCATAAACAGAGATGCCTTCTAAAATGCATTTAAATGAACATAATAGCCATGCTGAAATGGAATGAGGTTATTTACTAACATAAGTAATTTTGGACTTGAGAACTTGAACTCTTCACCCTCAGTTTAAAGAGAAACCAAGGACTTAAAAAATAGAGAATCCTGGTCCCTGGATTTCACATTCATGAAGAAATGCACAGTCAATTTTTAAGATGCCTTCTTTGTATTCTAGAACTGAGCAAATTAGTGATTACACTCTACATAATGGGAGCTATGATTGTCTTTAATAGAGATAAGAATTAGAAATAGGAAAAGGTAGCTG... |
Task1_train_34193 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | ACAATTCTGAAAATACTTGCAAATGTAAATTTGCATTAATAAGAAAATAAAGCTGGATGTGTTTTCAACATGTAGCTTTAAGTATATATATATTTTAATGGCCTCAGTGGGGGAAAATCATTTTAACTTATGTAAATATCCCTTTTTGCCTCTCTTGTGTCCTATAAAGTTGCCCAACAAGAGGTCCTCCCATAAGATTTGGAAATCAGAAAAGGATGACTCAATATTCTCCATTGGTACCTAAGGCAGACACAGGAACAGAGGTGAGGGCTGGAGAAACACCTGGAAGGATGCTGCAGGAAGCTGAGAACATCAACACT... | ACAATTCTGAAAATACTTGCAAATGTAAATTTGCATTAATAAGAAAATAAAGCTGGATGTGTTTTCAACATGTAGCTTTAAGTATATATATATTTTAATGGCCTCAGTGGGGGAAAATCATTTTAACTTATGTAAATATCCCTTTTTGCCTCTCTTGTGTCCTATAAAGTTGCCCAACAAGAGGTCCTCCCATAAGATTTGGAAATCAGAAAAGGATGACTCAATATTCTCCATTGGTACCTAAGGCAGACACAGGAACAGAGGTGAGGGCTGGAGAAACACCTGGAAGGATGCTGCAGGAAGCTGAGAACATCAACACT... |
Task1_train_34194 | This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Benign | CCCTTTTTGCTGTGCTTGTGTCCTATAGAGTTGCCCAATAAGAGTTCCTCCCGTGAGATTTGGAAATCAGAAAAGGAAGACTCAATATTATCCATTGGTAACTAAGACAGGTACAAGGACAGAGGTGAGGACTGGAGAAACACCTGGAAGGATGTTGCAGGAAGCTAAGAGCATCAGCACGCCTACCCCTAAGCTTCCAGACAGGACTGAGGACCACATGGTTAGAAAGCCCTTACTTTAGGGGCGGATGCATTCTGTTTTCTGAGGGAGAACCAGAGAATCCTGCCTCTAATATCAACTTTCCTGACTACTGTATCCTT... | CCCTTTTTGCTGTGCTTGTGTCCTATAGAGTTGCCCAATAAGAGTTCCTCCCGTGAGATTTGGAAATCAGAAAAGGAAGACTCAATATTATCCATTGGTAACTAAGACAGGTACAAGGACAGAGGTGAGGACTGGAGAAACACCTGGAAGGATGTTGCAGGAAGCTAAGAGCATCAGCACGCCTACCCCTAAGCTTCCAGACAGGACTGAGGACCACATGGTTAGAAAGCCCTTACTTTAGGGGCGGATGCATTCTGTTTTCTGAGGGAGAACCAGAGAATCCTGCCTCTAATATCAACTTTCCTGACTACTGTATCCTT... |
Task1_train_34195 | Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | GTTGTAAGTATGAGGAAGAGCAGAGCTTGTCAATCTTCTACTTGCTTTCACTCCCACTGTATTTCCTAACAACAGCAACCACAGCAACAGCCATAACATCACAGGACAAACCTCTACTACTTCCAAGGCTTTTATTTCAGTAAATCTGCTCTACCTCTATCTCAGGCAGCTAGAAGTTTTGATACTCATACAAATACTACTGCAGCTTTCTGTTCATAATTGGAAAAGTAGACAAGACTCAGTGTAATGCAGGCATTCCTTATGCCAGTCAGCATTCAGTTTTTGGATCATCATTGCACACATATACACACCATGTGCCT... | GTTGTAAGTATGAGGAAGAGCAGAGCTTGTCAATCTTCTACTTGCTTTCACTCCCACTGTATTTCCTAACAACAGCAACCACAGCAACAGCCATAACATCACAGGACAAACCTCTACTACTTCCAAGGCTTTTATTTCAGTAAATCTGCTCTACCTCTATCTCAGGCAGCTAGAAGTTTTGATACTCATACAAATACTACTGCAGCTTTCTGTTCATAATTGGAAAAGTAGACAAGACTCAGTGTAATGCAGGCATTCCTTATGCCAGTCAGCATTCAGTTTTTGGATCATCATTGCACACATATACACACCATGTGCCT... |
Task1_train_34196 | An alteration has been detected on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Benign | CAATGCATCTATCTCAGTAAATCTCCTCTACCTCTATCTCATGCTGCTAGAATTTTTGAGAGTCATGCAAGTACTGCTGTACCCTTTAGTTCATAATTTGAAAAGAAGGAAGCCTCAGTGCAACATAGGCAGTCCTTAAACCAGTCACCCTTTAGTTTCTGGATCATCATTATACACATAAACACAGCATGTATCATAAATATATATATATATATATATATATATGCACACACACACACACACACACACACACACACACACACACACATATATCCACGAGGCAATACTTACCACAGTCTGTGTTTTCTGTGGTATTATAT... | CAATGCATCTATCTCAGTAAATCTCCTCTACCTCTATCTCATGCTGCTAGAATTTTTGAGAGTCATGCAAGTACTGCTGTACCCTTTAGTTCATAATTTGAAAAGAAGGAAGCCTCAGTGCAACATAGGCAGTCCTTAAACCAGTCACCCTTTAGTTTCTGGATCATCATTATACACATAAACACAGCATGTATCATAAATATATATATATATATATATATATATGCACACACACACACACACACACACACACACACACACACACACATATATCCACGAGGCAATACTTACCACAGTCTGTGTTTTCTGTGGTATTATAT... |
Task1_train_34197 | With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | ACTTGGGTTCCAGAGACGAGGACCTGGATATCTTTTGGGGTGGGGACATTATTCATTCCACCAAAAATTAATATATTCTCCAAAATTGTCCTTCTTTAAAGTAAAATTTAAAAAATAACAAAGTATTTTTATGAAGCAAGAGAGCGGTACAAAATCTGAGACTTAGAGTCTGACTTATAAATCCTCTAACTTGTGAGTTTTAGCTGTTGGGGTATGCTCACTCCACTCCTTTATCTCACTCCTTTATCTGCTTAAAAGCAGCTTCTCCAGAAGGAAACTGATTGTCAAGAAAATTCTTCCTGGGAAATTTTATATCAGGG... | ACTTGGGTTCCAGAGACGAGGACCTGGATATCTTTTGGGGTGGGGACATTATTCATTCCACCAAAAATTAATATATTCTCCAAAATTGTCCTTCTTTAAAGTAAAATTTAAAAAATAACAAAGTATTTTTATGAAGCAAGAGAGCGGTACAAAATCTGAGACTTAGAGTCTGACTTATAAATCCTCTAACTTGTGAGTTTTAGCTGTTGGGGTATGCTCACTCCACTCCTTTATCTCACTCCTTTATCTGCTTAAAAGCAGCTTCTCCAGAAGGAAACTGATTGTCAAGAAAATTCTTCCTGGGAAATTTTATATCAGGG... |
Task1_train_34198 | The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | CTCGGGCTCCTGGGGCCACAGATCAGGGGACAAACACGGGCAGCTCTGCTCTGCTCTGCCTAAAGAGAGGTGCCCAGTGAATGCAGGTTCCAGACAAAAGGTGGAGCCTGGCATCCTGCCCTGCGTGTGGGCTCCAGCCTGCTGCCATCTGGGGAAACTGAGTCATGGCGAGGCTCGAGGATGTTTCTCAGACCACACCAGTCCCTGAAGGTCCCCTGACCTCCCAATTTTGATGGACAGTAAGAAGAGGTTCCCAGGCCGCCTGCCACAGGTTCTGACTCGGCCTGGGTTAGGGTAAGTCTCCGGGCTGCTGTCCTCAA... | CTCGGGCTCCTGGGGCCACAGATCAGGGGACAAACACGGGCAGCTCTGCTCTGCTCTGCCTAAAGAGAGGTGCCCAGTGAATGCAGGTTCCAGACAAAAGGTGGAGCCTGGCATCCTGCCCTGCGTGTGGGCTCCAGCCTGCTGCCATCTGGGGAAACTGAGTCATGGCGAGGCTCGAGGATGTTTCTCAGACCACACCAGTCCCTGAAGGTCCCCTGACCTCCCAATTTTGATGGACAGTAAGAAGAGGTTCCCAGGCCGCCTGCCACAGGTTCTGACTCGGCCTGGGTTAGGGTAAGTCTCCGGGCTGCTGTCCTCAA... |
Task1_train_34199 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | TTTTTTTTTTTTTGAGACGGTGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGGGCGATCTTGGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATTGTCTCTATCTCTTGACCTTGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCTTAGCCACCGCGCCCGGCCGCTTCTGCATATTTTTAAGCCAAGACCC... | TTTTTTTTTTTTTGAGACGGTGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGGGCGATCTTGGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATTGTCTCTATCTCTTGACCTTGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCTTAGCCACCGCGCCCGGCCGCTTCTGCATATTTTTAAGCCAAGACCC... |