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_48300
Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
CAAGGACAGTGCTCCGGGGTCTGCAGCTCTGTCTCAAAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTC...
CAAGGACAGTGCTCCGGGGTCTGCAGCTCTGTCTCAAAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTC...
Task1_train_48301
Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
GTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGA...
GTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGA...
Task1_train_48302
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAAC...
GCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAAC...
Task1_train_48303
A variant found on Chromosome 21 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TCTAGGAGTGGAATTACTGGCCTTTATGGTAAGTGTATGTTTTACTTTGTAAAAAACTGACAAACTTTTCTGAAAATATTGCATTCTTTTTCCTGTGTGCTGGCAGTGGATGAGCGTTACCCTACATCCTTGTCCACACTTGGTGTTGTCAGTCTTTTAAACTGTAGCCATCCTAGTGGATGTGAAGTGACATCTCATTGTGGTTTGAATTTACATTTTCCTGAGGACTACTGATGTGGAGCATCATTTTAAGGACTTTTTGGCCATTTGCCTGTCTTCCTTCTGAAATGTCTTTCAGATCTCTTGTCCATTTTTATTTG...
TCTAGGAGTGGAATTACTGGCCTTTATGGTAAGTGTATGTTTTACTTTGTAAAAAACTGACAAACTTTTCTGAAAATATTGCATTCTTTTTCCTGTGTGCTGGCAGTGGATGAGCGTTACCCTACATCCTTGTCCACACTTGGTGTTGTCAGTCTTTTAAACTGTAGCCATCCTAGTGGATGTGAAGTGACATCTCATTGTGGTTTGAATTTACATTTTCCTGAGGACTACTGATGTGGAGCATCATTTTAAGGACTTTTTGGCCATTTGCCTGTCTTCCTTCTGAAATGTCTTTCAGATCTCTTGTCCATTTTTATTTG...
Task1_train_48304
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
TAAAAGCTCAATGCAATCCCAATCAAAATTATAGCAGTTTAAAAAATACTGGAAAAGCTTTCTAAAATTAATTGAGAACAAGCTAGAACCAACGTTTTTAGAAAATAAGATAGTGGCACCTTCTTTATGAGCTGTTAGGATATATTATGAAGCTGAATAACATGGATAAAACAGCTGGAATGGATGCAAGGATAGATCAAGAGATGAATAGAACAAAATACAAAATAGGGATTTCAGAAGCAGGCTATACAAACATTTCTCAGACAAAAGAGATGTTTCAAATGGGAGATGGAGAGAATAAACTAACTTTAAAAAAGGAC...
TAAAAGCTCAATGCAATCCCAATCAAAATTATAGCAGTTTAAAAAATACTGGAAAAGCTTTCTAAAATTAATTGAGAACAAGCTAGAACCAACGTTTTTAGAAAATAAGATAGTGGCACCTTCTTTATGAGCTGTTAGGATATATTATGAAGCTGAATAACATGGATAAAACAGCTGGAATGGATGCAAGGATAGATCAAGAGATGAATAGAACAAAATACAAAATAGGGATTTCAGAAGCAGGCTATACAAACATTTCTCAGACAAAAGAGATGTTTCAAATGGGAGATGGAGAGAATAAACTAACTTTAAAAAAGGAC...
Task1_train_48305
With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
CACAAGAAAAACACACATAGCCTGATAAGAAATGGGCTAGGAATGTGAACAGGAAACTTTCAGTGTGGACGGCCATGCATTTAGGCCATAGTGGGTTCCCAGCAGCCGTCAGTGCGGAGGGCAGGGAGCTGAGAGCAGATCAGGCTGAGCCGGGGTCACGCGGGGTCCCCCAGCCACTGAGGGCCCTGGGCAGCAACCACGCAGACCCCGCCCCCCAGGCTCCACCTCACTTTCTGTGGCATTTCTGTGCCTGTTCTGACCACAGCCGTGGCAGCACCATGTCCATCAGGCTGCGGCCGGCCTGGCTGTGGGGTGACTGC...
CACAAGAAAAACACACATAGCCTGATAAGAAATGGGCTAGGAATGTGAACAGGAAACTTTCAGTGTGGACGGCCATGCATTTAGGCCATAGTGGGTTCCCAGCAGCCGTCAGTGCGGAGGGCAGGGAGCTGAGAGCAGATCAGGCTGAGCCGGGGTCACGCGGGGTCCCCCAGCCACTGAGGGCCCTGGGCAGCAACCACGCAGACCCCGCCCCCCAGGCTCCACCTCACTTTCTGTGGCATTTCTGTGCCTGTTCTGACCACAGCCGTGGCAGCACCATGTCCATCAGGCTGCGGCCGGCCTGGCTGTGGGGTGACTGC...
Task1_train_48306
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TGAGTGTGGAAAGGTATATGGTAGAAACACCCACAGAGGTGTTAGAGATAGAACTCAGAGTCGTAAGGAAAACGAGCGCTTAGACAAAGGACTTTTTAGCAAAGCAAATTTATCTTTGCGCAGAGAAGTGCCTCTCACGTGGCCGGTTGCCACGAGAGCACACAGAACAAAGGAGAGTGAAAGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTT...
TGAGTGTGGAAAGGTATATGGTAGAAACACCCACAGAGGTGTTAGAGATAGAACTCAGAGTCGTAAGGAAAACGAGCGCTTAGACAAAGGACTTTTTAGCAAAGCAAATTTATCTTTGCGCAGAGAAGTGCCTCTCACGTGGCCGGTTGCCACGAGAGCACACAGAACAAAGGAGAGTGAAAGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTT...
Task1_train_48307
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTTTTCTCAAATAAGGAAAGGAATGTGAGCTGGTGCTGTGGCATGCCTGGGCGTGTAGGAAAAGCAGAAGGAAAGAAGAAGAAAGACATGGGGAGGGGTACTGGGAATGAAACACTAAAGGACTGATCAGGCTGTTTGAAGAGAAACCTTGCCATATCTCACAAGAGGTATCGTTTGTAATAAT...
AGTTTTTATTTTTGACGCAAATCCTGCCCCTGTGCCCTTTTTTAACTGGCTGGGGTCGGACCACACAATCTAAGCTAGACCCGATTGGCTAAACATTTAGGGGAAGGGGTCGTCTGCGGCGAGCTAGAGAGTCAGTCTTTTCTCAAATAAGGAAAGGAATGTGAGCTGGTGCTGTGGCATGCCTGGGCGTGTAGGAAAAGCAGAAGGAAAGAAGAAGAAAGACATGGGGAGGGGTACTGGGAATGAAACACTAAAGGACTGATCAGGCTGTTTGAAGAGAAACCTTGCCATATCTCACAAGAGGTATCGTTTGTAATAAT...
Task1_train_48308
A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
TCGTTTGTAATAATGAACAACTGGAGAGACAGTCAGGGCCATCCACCTGGCGTTGCAGACACCAAGTGCGGCGTGTCCACACTTTGGAACGCTGTACACCTTGCTGAAGAAAACCATGAGAAAATAGTTTTTAAAATCAACCCGGACAAAAAAAAGAATAATGTGTGCCCCCCGCATTGTGATTGTATAGCTGTGGAGAAGTAAAGACTCAGGGCCTCTTGCGGGCAACGTGGTGACGGTCATACCTCGCCAGCATCCCTTGCCTGCATTTGCATTTCTAGGAGTCTATTCTCAGATTTGCTCAATCCTGTTTGAAACCA...
TCGTTTGTAATAATGAACAACTGGAGAGACAGTCAGGGCCATCCACCTGGCGTTGCAGACACCAAGTGCGGCGTGTCCACACTTTGGAACGCTGTACACCTTGCTGAAGAAAACCATGAGAAAATAGTTTTTAAAATCAACCCGGACAAAAAAAAGAATAATGTGTGCCCCCCGCATTGTGATTGTATAGCTGTGGAGAAGTAAAGACTCAGGGCCTCTTGCGGGCAACGTGGTGACGGTCATACCTCGCCAGCATCCCTTGCCTGCATTTGCATTTCTAGGAGTCTATTCTCAGATTTGCTCAATCCTGTTTGAAACCA...
Task1_train_48309
Here is a mutation located on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CCAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTAT...
CCAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTAT...
Task1_train_48310
A variant found on Chromosome 21 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
CAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTATG...
CAGTCTGGGCAACAGAGCCAGACTCCGCCTAAAAAATAATAGAAGTTGCTCCAGGGATTCCAGTTCTGGAAACCTGTTGATGAGATTGTTTGACCCATCATCCTGCTGAAAACAATTGAAAACACTAGGAAGAATCTTCCTAGTTGCAACAGGAAACTGGAAAAGGAATAAAGAATTACAGGATTACAGGCCCAAATCAAAGACAGGGGTCTTTGCCCTTTTTGCACAAGGGAACTTCCCGGCCACCTCGTGAAAGCTTTGGAGGTTTTCAGATAAGTAAAAGGAAACCAACTTCATGAAAACACTGCTGTTACACTATG...
Task1_train_48311
Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CAAGTCCACAAGAAACACTTCTGCCGTGCTTGCCTTCCCATCCCGGGTTCTGCTCCCGTGCCCACGTCCTCATCCCAGGTTCTGCCATTGTGTCTGCTTGCTGTGGATTGAATTGTGTCCCTCAAAAGGTGCCGAAGTCCTGACCGCTGGTACATGTGAATGTGACCCTATATGGAAATAGGGTCTTTGTAGGTGATCAAGTTAAGAGGAGGCTGTTAGGATAGGCCCTACTGCAATAATGCTTTGTATCCTTATAAAAAGGGGAGATTTGGACACACACACACACACACACACACACACACACACACACACACACACAC...
CAAGTCCACAAGAAACACTTCTGCCGTGCTTGCCTTCCCATCCCGGGTTCTGCTCCCGTGCCCACGTCCTCATCCCAGGTTCTGCCATTGTGTCTGCTTGCTGTGGATTGAATTGTGTCCCTCAAAAGGTGCCGAAGTCCTGACCGCTGGTACATGTGAATGTGACCCTATATGGAAATAGGGTCTTTGTAGGTGATCAAGTTAAGAGGAGGCTGTTAGGATAGGCCCTACTGCAATAATGCTTTGTATCCTTATAAAAAGGGGAGATTTGGACACACACACACACACACACACACACACACACACACACACACACACAC...
Task1_train_48312
Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
AATGCCAATCTAACCCAAACTTTTCCAGAAAACCGTGGGGTAGACACAGTGTCGGCGAGGGTGCTAGGGATTAGGGGACGGAGGCTGAGGCCTCACGGGTGGCAGGGATGCCCTTGGTGGGCTCTGGCCATGGACACAGACTCCTGGGATGAGAGGGGGACTCATGGAGGAACACCCACGCCTTGACCCTGAGATGGCCTTGCAGGGAGGGTAACTGAAAATTTACCCACTGGGGACAGTTGCCTACTTACTAAAACAGTTCCAGCCACCACCGCAGCCCCTGGAAGGCCATCCCCCCAGAAAATCCCCCAGGTCTCAGC...
AATGCCAATCTAACCCAAACTTTTCCAGAAAACCGTGGGGTAGACACAGTGTCGGCGAGGGTGCTAGGGATTAGGGGACGGAGGCTGAGGCCTCACGGGTGGCAGGGATGCCCTTGGTGGGCTCTGGCCATGGACACAGACTCCTGGGATGAGAGGGGGACTCATGGAGGAACACCCACGCCTTGACCCTGAGATGGCCTTGCAGGGAGGGTAACTGAAAATTTACCCACTGGGGACAGTTGCCTACTTACTAAAACAGTTCCAGCCACCACCGCAGCCCCTGGAAGGCCATCCCCCCAGAAAATCCCCCAGGTCTCAGC...
Task1_train_48313
This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign?
Benign
GTGAGTGACCATTTTGAGGGACGGTTTTCCAAGGTGCTTTCACTAGGAGTTGAAGCTCTGATGAAGCAGAAGACACATCGAATGAGGACCCAGAGCAGGGGTCAGAGGTGAGACCCCCCCACCAGGAGATGTCCTCCCTGGGGATGGCCAGACAGGCTGGGTCCTGTCGGTGCCTCGGACGAGGGCAGGTGGGGACAATGACAAACATGGAGGAGGTCAGAGAGCCAGCCCCGGCCCCTCCACCTGGCTCTCTGTTCTGACCTTGTAGCCATCAGTGGGCATAGTGAGGTGGGTGGGGCTCAGACACGCATGTGTGGGGA...
GTGAGTGACCATTTTGAGGGACGGTTTTCCAAGGTGCTTTCACTAGGAGTTGAAGCTCTGATGAAGCAGAAGACACATCGAATGAGGACCCAGAGCAGGGGTCAGAGGTGAGACCCCCCCACCAGGAGATGTCCTCCCTGGGGATGGCCAGACAGGCTGGGTCCTGTCGGTGCCTCGGACGAGGGCAGGTGGGGACAATGACAAACATGGAGGAGGTCAGAGAGCCAGCCCCGGCCCCTCCACCTGGCTCTCTGTTCTGACCTTGTAGCCATCAGTGGGCATAGTGAGGTGGGTGGGGCTCAGACACGCATGTGTGGGGA...
Task1_train_48314
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
TTCACCTTTGAACAATGTTCTTCCTGGTCTAGAATTCTAGGTTTGCAGTGATTTTCTTTCAGCTCTTTAAAGATGTCATTCTATTACCTTTAGTTTCTTCAACAGCTCTTTTAGGAGAGCTTTAAAGGAATCATTTTTAAAACATTTTGTTCAGCTTTTCAAGTTGTTCTCAGCAGGAGTATATGTCTGACATAGCTACTTTGTCCCATATGGAAGCAGAGGCCCCCATTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTTCCATCCCATAGGACCAGATCCTGTACCTCTGGAGGGACCAGGCCATGC...
TTCACCTTTGAACAATGTTCTTCCTGGTCTAGAATTCTAGGTTTGCAGTGATTTTCTTTCAGCTCTTTAAAGATGTCATTCTATTACCTTTAGTTTCTTCAACAGCTCTTTTAGGAGAGCTTTAAAGGAATCATTTTTAAAACATTTTGTTCAGCTTTTCAAGTTGTTCTCAGCAGGAGTATATGTCTGACATAGCTACTTTGTCCCATATGGAAGCAGAGGCCCCCATTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTTCCATCCCATAGGACCAGATCCTGTACCTCTGGAGGGACCAGGCCATGC...
Task1_train_48315
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GGCCCCTGGAGCCCTCTCCCCTGGGTAGGGGCCACTTCTCAGGGCCGCATGCATGCTGGGCTATGGCTGGTCATCACTGACATCACCAGGCACCAAGCAGCCCACCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAG...
GGCCCCTGGAGCCCTCTCCCCTGGGTAGGGGCCACTTCTCAGGGCCGCATGCATGCTGGGCTATGGCTGGTCATCACTGACATCACCAGGCACCAAGCAGCCCACCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAG...
Task1_train_48316
This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease?
Benign
CCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAGACTTAGATCAGATGTCTAGCTGGGGTGACCAAGGACTTAGCTGGCAATCAAGAAAACACACTGCAAGCGAAAGCAGTGCTTGCTGCTTTTCACACGGCAGTGCT...
CCTCCCTCCCTGGTGGGGTCCACAGTCAGGGTTACTACCCCTTCACTTTCACATTCTCAGCACCTGGTGCAATTTCCAGCATGTGGGAGGACTCACTGCATCATGAATAAATGAATGCTTGAGAAGTAAAAGTATCGGATACAATTGGAAACATTTAGCAGAAACAACCAAAAAGATGTGGTGGCCAATTGGATATTATTTGCAGAAGAAATGGAGACTTAGATCAGATGTCTAGCTGGGGTGACCAAGGACTTAGCTGGCAATCAAGAAAACACACTGCAAGCGAAAGCAGTGCTTGCTGCTTTTCACACGGCAGTGCT...
Task1_train_48317
A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
AGGAGTTCAAGACCAGCTGGGCAACATAGCAAGACTCTGGTCTCTACAAAAAAAATTTTTTTTTACAAAAAGAAATATTGATAATGGGACTTGAATTATCTATGATTGAAGCGTATCATAAAGCTATGGCCTGAAAGAGCAGAACCAAATCCATAGCCCAAAATGGACCAGTTCAAAACTTTTCTATCCTGTCTGAAACCCAGTCCTATCCCCAGCGTTCCCACATGCAAGTCTGAGTGGACCTCGGGGAAGGCCGCGGGGAGCGGCATGGCCTCTCTTTCCTTGCTCCCCTTCTCCCTGTTTTGGGCTCTAATTTCTTC...
AGGAGTTCAAGACCAGCTGGGCAACATAGCAAGACTCTGGTCTCTACAAAAAAAATTTTTTTTTACAAAAAGAAATATTGATAATGGGACTTGAATTATCTATGATTGAAGCGTATCATAAAGCTATGGCCTGAAAGAGCAGAACCAAATCCATAGCCCAAAATGGACCAGTTCAAAACTTTTCTATCCTGTCTGAAACCCAGTCCTATCCCCAGCGTTCCCACATGCAAGTCTGAGTGGACCTCGGGGAAGGCCGCGGGGAGCGGCATGGCCTCTCTTTCCTTGCTCCCCTTCTCCCTGTTTTGGGCTCTAATTTCTTC...
Task1_train_48318
A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic?
Benign
GTGGCGTGTCCCTTTGATGGAATATGATTCAGCCAAGAAAAGGAATGGCGTTCTGAAACATACCCAAACACAGGTGTACCTTGAAAACATGCTGAGTGAACAAAGCTAGACACAAAGACCACATATTCCATGACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACA...
GTGGCGTGTCCCTTTGATGGAATATGATTCAGCCAAGAAAAGGAATGGCGTTCTGAAACATACCCAAACACAGGTGTACCTTGAAAACATGCTGAGTGAACAAAGCTAGACACAAAGACCACATATTCCATGACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACA...
Task1_train_48319
A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
GACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATC...
GACTGCGTCTATATGAAATGTGCAGAACAGGCAAATCCATAGAGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATC...
Task1_train_48320
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
AGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAG...
AGACAAGCAGAATAGTATTGGTTGCCAGGGGCTGGGCATGGCTGCTTAATAGTACCGGGGTTCCTTCGGGAGCGATGATAGTATTCTGGAACTAGGTAGTGGGGATGGTTGCACAACATTATGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAG...
Task1_train_48321
This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign?
Benign
TGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACT...
TGACTGTACTGTCACTGAATTGCACACTTTAAAATGGGTAAAATGGTACATTTTATTTTATGGTTGATCACAATTTAAATAAAATTACACCTGCCAAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACT...
Task1_train_48322
This alteration occurs on Chromosome 21. Is it associated with a disease or is it a benign variant?
Benign
AAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACTTCAAATTTTTCACATTAATCTTCCACCTGTCATGGAGATTACAAGTACTTTCTGGCAGTTCATATCTTCATTTGTGTACCCAATGATTCCTTCAG...
AAGGGTTTCTAAGAATGAAGCCCCTCGCTCTGCAATGCTGGATATTATCAGCATTTTAAATCTTGTTTGCTCTTACAGGTGGGAGACGTGTGTTTAAACCTGAGAAACTTTAGTTATTAATGAGATCAACTAGCTGTTCATCTCATTCATGCTTATTGGAAATTTAAAATTTTTAGTCTTCTATTCATTTCTTTTGTATCTTATCCTGTTTTAGTGGTAAGGACTTCAAATTTTTCACATTAATCTTCCACCTGTCATGGAGATTACAAGTACTTTCTGGCAGTTCATATCTTCATTTGTGTACCCAATGATTCCTTCAG...
Task1_train_48323
This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CACTTCGGAGATAAGTCTTTATATTGAAAGGCTCAATAAGTTCTAACCACTGAAAGTAAAATAATGCATTAGCCTAGAAACAAAAGCGTGACACTTTAGAACAATAAAAAGAAACCCAAATGCTCCCAGAGAGTTAAGGAAAGAGAGAAACTAAAAAATGACAAATGACCAGTATCAGACTGTCATCGGCAACACTGGACATCACAAAAAAATGGTGACATGTGTTCATCATTTTGAGGAAAAGTAATTTAAAACCAGAATTTTATACCCAGCTAAACTATCATTATAAATGTGAGGATAAAGTTGACATATTTTCAGAC...
CACTTCGGAGATAAGTCTTTATATTGAAAGGCTCAATAAGTTCTAACCACTGAAAGTAAAATAATGCATTAGCCTAGAAACAAAAGCGTGACACTTTAGAACAATAAAAAGAAACCCAAATGCTCCCAGAGAGTTAAGGAAAGAGAGAAACTAAAAAATGACAAATGACCAGTATCAGACTGTCATCGGCAACACTGGACATCACAAAAAAATGGTGACATGTGTTCATCATTTTGAGGAAAAGTAATTTAAAACCAGAATTTTATACCCAGCTAAACTATCATTATAAATGTGAGGATAAAGTTGACATATTTTCAGAC...
Task1_train_48324
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
GAGCTGTGGACAGAACTTAGAAGTCTATGGACCCAGAGCCGATCTGTGGCCATGTGGGAGTCACCTTAAGGCCTAGGGACAAGCCGGGCGAGGCCACAAGTTCACAGGCAACTCCTTTCACTGCTATAGTTCAGAATCACACTTAAAAACCAAGAGAATTGGGGCAGCCACAGTGATTGTGAGCTAGTCACCAAGTAATCCATTTTAAAAGTTGGTTGTCTTACGAGTCGATTACAGAAGAACAAGGATGCGTCTTTGATATTTATCTGCTCCTTTACCTTCCCCTGTTCCTCCTACTCCTTCCTGCAGGTCAGGGCCCA...
GAGCTGTGGACAGAACTTAGAAGTCTATGGACCCAGAGCCGATCTGTGGCCATGTGGGAGTCACCTTAAGGCCTAGGGACAAGCCGGGCGAGGCCACAAGTTCACAGGCAACTCCTTTCACTGCTATAGTTCAGAATCACACTTAAAAACCAAGAGAATTGGGGCAGCCACAGTGATTGTGAGCTAGTCACCAAGTAATCCATTTTAAAAGTTGGTTGTCTTACGAGTCGATTACAGAAGAACAAGGATGCGTCTTTGATATTTATCTGCTCCTTTACCTTCCCCTGTTCCTCCTACTCCTTCCTGCAGGTCAGGGCCCA...
Task1_train_48325
A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic?
Benign
TAAATAGACCATGTTATGGATTGCTGGATATGTCGACTCTCCCCAAATTGATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGA...
TAAATAGACCATGTTATGGATTGCTGGATATGTCGACTCTCCCCAAATTGATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGA...
Task1_train_48326
This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
ATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGT...
ATCTATATAGTTTCAATACACTCCCAATCAAAATCTCAGCACAAATTCTGTAGATATTGATAAGCTTATTCAAATATCTATATGGAAAGACAAAGAAACTAGAGTAGCCTAAACAACTTCTTAAAAGAAGAACAAAATTGGAGAACTCACACTAGCTGATTTCAAGACCTACTATAAAGCTGCATTTATCAGGGCAGGATGGTGTTGGCAAAAAGATACTTAGCATATGACCCAGCTATTCCACTCCTAGACATTTACCCAAGAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGT...
Task1_train_48327
This sequence variant lies on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Benign
GAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTT...
GAGAAAGAAACAAATACGTCCATGCAAAAACCTGGACTTGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTT...
Task1_train_48328
A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATG...
TGCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATG...
Task1_train_48329
A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATGT...
GCTAACAAATGCCCCATGTGGAGCACTAGCATCACAGAACTTGGGCTCCAAGTGGCCCTGAGGGCCACAGCTCCAGAGGGCGGGGGCTGAGCCAGGCCTCATCCATGCTTCTCTGTGCACAGGGCAGGTAGGTTCTCCAGAAGCATTTTTTGGTTACCAACCCTCCCTCCTCTCATGCTCTGATTTCCAGTTTGACCTCTAACTCCCAGCCTGGGGGACCAGAGTGCTTACGTGTGTGCATAAGTGTGTGCACGTTGTATAGTGCACACATTGGGTGTGTTCATGGATTCGAATGTGTTCGGCTGCAAGCATTTATATGT...
Task1_train_48330
A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GGCAAACAGTTTATGGCTAAGACTACAAAAACACAGGCAACAAAAACCAAAATAGACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCA...
GGCAAACAGTTTATGGCTAAGACTACAAAAACACAGGCAACAAAAACCAAAATAGACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCA...
Task1_train_48331
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCAACATCACTAATCATCAGGGAACTTCAGATCAAAACTACAATGAGATAGCATCAT...
GACAAATGAGATTATATTAAACTGAAAAGCTCTGCACAGCAAACGGAACAATCAACAGAGTGAAGAGACAACCTGTGTAATGGGAGAAAATATTTGTAAACTATGCATCTGACAAGTGACTAATATCCAGAATATGTAAGGAACTCAAACAACTCAACAACAACAACAAAACAAATAATTCCATTAATAAATGGGCAAAGCACCTGAATAGGCATCTCTCAAAAGAAGACATACAAATGGCCAACAGGTATATTAAAAAAAACTCAACATCACTAATCATCAGGGAACTTCAGATCAAAACTACAATGAGATAGCATCAT...
Task1_train_48332
A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TTTTCACTTCAAGGGGCCCATCCACCACACACCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAA...
TTTTCACTTCAAGGGGCCCATCCACCACACACCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAA...
Task1_train_48333
This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAAATCCTCTCTCTTTAGATGGAAGGAGCTCCTT...
CCTCGAGCCCTCACCTGCTGGTCACTGCCTGTGGGCCTGAAGCCCTCCAACTTTCCAGGCAGAGCCAAGCAGCTCTCCCTTAATCTCAGGATCCTCCAGGCTAGATGAGCCCTGGGGCTCTAGAGTCCTCAACCACAAAGGCTGCCGAATGTCTTCTTCTCAAAATTAAAAACAATTCACTTCCCATAAAGAAATCTTTCAACCTCCTAGAACAACCCCTCTGAACTCTGAACTGGACCTTCCCTTCACAATAATGTTTTTTCACATTCCCACTCATAAATAAACCCAAATCCTCTCTCTTTAGATGGAAGGAGCTCCTT...
Task1_train_48334
Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TTTCCTGAATAAAAATAAACGTCCAGACCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGG...
TTTCCTGAATAAAAATAAACGTCCAGACCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGG...
Task1_train_48335
Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
CCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGG...
CCCATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGG...
Task1_train_48336
A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
ATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGGCTA...
ATAAAGTGCCCAGCAGCATGAGTGAGAAAATCACCCACCTCTGAGGCACATAAGGAAACACTGAATGCCAGAATATGGTCCCAGATACTTCCAGGGAAAAACCAAGTTACAAACAAAGCACAGAGAATCAGAATCCACTGAACTTCTCACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGCAGTGATATGACCTCAGCTCCCTGCAGCCTCCACCTCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCTTGCACCACCACACCTGGCTA...
Task1_train_48337
A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TCAGAGGCCCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGC...
TCAGAGGCCCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGC...
Task1_train_48338
This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease?
Benign
CCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGCACCCTACG...
CCACTTTACCCAAAAAAGCCTACCTGCCTCCCAGCATTCCAAGCGGTCATGTCGACACCACTGAGATGGAACACAGGAACACGCAGCATACTAAACACACGCAGGTAGTAAACCGTTTTATTGGAAACTGGTTAAAAATTAAGGCACTCCAAGCTTTATGGTTTCCTTGAGGTTACAGTTTTGTGGCTGCTCTTAGTGTATTTCAGAAAAAAGCAGATGGACGAAGACCGACCTTACAGACGTGGGTTTCTACACTGAGCGCAAGGGCTGACTACGCTGTATTTCACAACCGAGCCCTAGCGCCAGCTCAGCACCCTACG...
Task1_train_48339
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TTTAGTTGTTTTTAAAACATAAAGTTTAGAATTAGCTGCACAGGTTTGACTAAAAATCCCGTTGAAATTTTAGCTGAGGCAGCATCCGATTTTTCCGGAGTAACTGACAGAGAAGAACTGCACTCTCCCGTTGGTTCTCCTGGCTGCTTGGAAGCTGGTGTTTGTGTGGGACCTCCCCTAGGTGCTGCAGATGAGAGCAGTGCTGAGTGTTCCCAGGCCGTGGGTCCCGCCCCGCCACTGCCTCGCTCCCTCCCTCCCCCTCAGAATTGAGTGGGCCGGGTGGGATTGTCGATATTGTGGTCATCTTTTCCTTGCTCGGA...
TTTAGTTGTTTTTAAAACATAAAGTTTAGAATTAGCTGCACAGGTTTGACTAAAAATCCCGTTGAAATTTTAGCTGAGGCAGCATCCGATTTTTCCGGAGTAACTGACAGAGAAGAACTGCACTCTCCCGTTGGTTCTCCTGGCTGCTTGGAAGCTGGTGTTTGTGTGGGACCTCCCCTAGGTGCTGCAGATGAGAGCAGTGCTGAGTGTTCCCAGGCCGTGGGTCCCGCCCCGCCACTGCCTCGCTCCCTCCCTCCCCCTCAGAATTGAGTGGGCCGGGTGGGATTGTCGATATTGTGGTCATCTTTTCCTTGCTCGGA...
Task1_train_48340
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
GAGTGTCCGGGAGGGGTGGCCCTTTCCGAGCTGTGGGGCTGACCCGGGTCCAGAGGTGGAGGGATATGAGTGGGAGCCACGGGCCACGGTGCTTCCTGAGCCTGCAGAGGCCGAGAGCTGGGGCTCCAGCCGGTGCTCCGCACAGGTACCCTGTTCTCAGGGCGTGAGCTCGTGAGGCCCGTGGGGGCTGTGGGGGACGTTTCGGGGGCACCCAGGCCCACCCTTGTGAGGAGCCTGGTGGCTCTGCTGATGCCGAGCTCCCTCATGTGCCCCTCCCCCGACATTGACCACAGCTCCTGCCGGGTCCCACTGGGGGTCCC...
GAGTGTCCGGGAGGGGTGGCCCTTTCCGAGCTGTGGGGCTGACCCGGGTCCAGAGGTGGAGGGATATGAGTGGGAGCCACGGGCCACGGTGCTTCCTGAGCCTGCAGAGGCCGAGAGCTGGGGCTCCAGCCGGTGCTCCGCACAGGTACCCTGTTCTCAGGGCGTGAGCTCGTGAGGCCCGTGGGGGCTGTGGGGGACGTTTCGGGGGCACCCAGGCCCACCCTTGTGAGGAGCCTGGTGGCTCTGCTGATGCCGAGCTCCCTCATGTGCCCCTCCCCCGACATTGACCACAGCTCCTGCCGGGTCCCACTGGGGGTCCC...
Task1_train_48341
Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAA...
TTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAA...
Task1_train_48342
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CACATTAACTGACCCCAGCCCTGGGGGAGGGTGGCTGCAACCCCAGCCGCACAGCCTGGAGGAGGCAGGGTGACGAGGGACTCCAGCTGGGGGAGCTGGCGTGCAGAGCACTGAGGGGGTGGGTGGATTGTGGGGTGAAACCTGGGTGTGTGCGTGTGAGGATGCACATGTGTGAACGTGTGTGTGAGTGAGCACGCCTGTGTAAACTGCCTGGCTCCACCTCTGATGGGCTCCGTGATCTTGAGCGGGGTCACCAGGCTCATGCCTCAGTTTTCTTCATCTGTGAAATGGGCCGATGGCCAGGCTGCACACAGGTCCTC...
CACATTAACTGACCCCAGCCCTGGGGGAGGGTGGCTGCAACCCCAGCCGCACAGCCTGGAGGAGGCAGGGTGACGAGGGACTCCAGCTGGGGGAGCTGGCGTGCAGAGCACTGAGGGGGTGGGTGGATTGTGGGGTGAAACCTGGGTGTGTGCGTGTGAGGATGCACATGTGTGAACGTGTGTGTGAGTGAGCACGCCTGTGTAAACTGCCTGGCTCCACCTCTGATGGGCTCCGTGATCTTGAGCGGGGTCACCAGGCTCATGCCTCAGTTTTCTTCATCTGTGAAATGGGCCGATGGCCAGGCTGCACACAGGTCCTC...
Task1_train_48343
Here is a mutation located on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
AATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATC...
AATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATC...
Task1_train_48344
A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGAC...
GGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGAC...
Task1_train_48345
Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TCTCTCAAGTCAGATTGGGCAGGAGAGCAACTTGCGAAAGCTGGGTCACAAGACACCACTTACGTGAACTTCCTAGACACAAGCCTGGCAACAACAGGGGCTGGCGAGTCCTGGCAGGCTGGGCCTCCCTTGCCCCCGAAGCTGCTCCCCGCCCACCTACTGGTGGCTGCCCCTGCACCCCGGCGCCCACGTGCCTGCTCCCGCGTGAAGTTCTTGTCGGGCCCCAGGAGGGAGGGCGTGATGAAGCTCTCCCCGGGCCTCTCCTGCAGCCAGAGGGGCTGAGATCGGGGGCCCCACCAAGTGGCAGGTGCGCAGAGCAC...
TCTCTCAAGTCAGATTGGGCAGGAGAGCAACTTGCGAAAGCTGGGTCACAAGACACCACTTACGTGAACTTCCTAGACACAAGCCTGGCAACAACAGGGGCTGGCGAGTCCTGGCAGGCTGGGCCTCCCTTGCCCCCGAAGCTGCTCCCCGCCCACCTACTGGTGGCTGCCCCTGCACCCCGGCGCCCACGTGCCTGCTCCCGCGTGAAGTTCTTGTCGGGCCCCAGGAGGGAGGGCGTGATGAAGCTCTCCCCGGGCCTCTCCTGCAGCCAGAGGGGCTGAGATCGGGGGCCCCACCAAGTGGCAGGTGCGCAGAGCAC...
Task1_train_48346
The following genetic variant occurs on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AGGGGTGGATCCTGGGGTCTCCAGGGCCCAGGCTGAGCTGCAGAATCCGAGTTACAAGAACCACGTGGGGCCTGCAAGGGGAAGAGCAGAGTGTCAGCGTTAGACTTGCAGGTTGGAGCCGCCACTTGTCCAGGAAATGGAAATGCTGAGCACGAAGAGCAGAGCAGCCTCTGGCCCCTCCTGTGCCAGTACTCATGGGGCTTGCAGCTTCCAAGCAAGAGCAAATCATGGACTTGAACTCTGAGAGGTTGTCTTTTATCTGATGGTACTAAGTGGAGATTTGTAAATATAAAAGCTTAGGCTTGATGATCAATTAGACC...
AGGGGTGGATCCTGGGGTCTCCAGGGCCCAGGCTGAGCTGCAGAATCCGAGTTACAAGAACCACGTGGGGCCTGCAAGGGGAAGAGCAGAGTGTCAGCGTTAGACTTGCAGGTTGGAGCCGCCACTTGTCCAGGAAATGGAAATGCTGAGCACGAAGAGCAGAGCAGCCTCTGGCCCCTCCTGTGCCAGTACTCATGGGGCTTGCAGCTTCCAAGCAAGAGCAAATCATGGACTTGAACTCTGAGAGGTTGTCTTTTATCTGATGGTACTAAGTGGAGATTTGTAAATATAAAAGCTTAGGCTTGATGATCAATTAGACC...
Task1_train_48347
With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCC...
ACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCC...
Task1_train_48348
A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless?
Benign
CCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCAC...
CCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCAC...
Task1_train_48349
Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
TTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAAC...
TTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAAC...
Task1_train_48350
A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCAC...
GTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCAC...
Task1_train_48351
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GCTCTGTCATCTGACCACACAGCCTGCAGCTCCAGGGGAGTACGTCAGTTATTTTCTCTTCCTTTCCTCCTTTTCCCATCCCACAAAAAAACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCC...
GCTCTGTCATCTGACCACACAGCCTGCAGCTCCAGGGGAGTACGTCAGTTATTTTCTCTTCCTTTCCTCCTTTTCCCATCCCACAAAAAAACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCC...
Task1_train_48352
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
AACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCCCACGTGTGCAGCCTCGGACCCTGCAGGGCAGGAACGTCAGTCCCACTGGAAGGGACTTCCAGCTACCTACAGGCTCTACCCACAGCTCC...
AACTACGCAAATGCCAGCAGGAGATGCAGAAGAGGCCCGCCTGTTTTGCTAAGCCCCTGCGCCCTGAGTGTCAGCCCTCAGATCTCTGTGCTCCAGGTGAACACCGCGGGTCCCGCAGGTGGAGGGAGGCAGAGGCCCCTGCAGGTGCACAGGCTCCACCCACAGGAGCTACACAGGAGCTGCCCAGGGCCTCTGCAGGGAGAGGGCGCTCCCCTCTCTCGTGCCAGCTCCCACGTGTGCAGCCTCGGACCCTGCAGGGCAGGAACGTCAGTCCCACTGGAAGGGACTTCCAGCTACCTACAGGCTCTACCCACAGCTCC...
Task1_train_48353
This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign?
Benign
CATTGGCCCTTCACCAATTACACCACACCAGCATCCCCTCACCAGCATCCCTCACAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCACAAATGTCCCCTCATGGTCCTAACACCAATGTCCCCTCATGGTCCCAACACCAGTGTCCCCTCACAAATGTCCCCTTCATTGTCCCAACACCAATGTCCCCACACAAATGTTCCCTCACGGTCCTAACACCAATGTCCCCTCACAAT...
CATTGGCCCTTCACCAATTACACCACACCAGCATCCCCTCACCAGCATCCCTCACAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCACAAATGTCCCCTCATGGTCCTAACACCAATGTCCCCTCATGGTCCCAACACCAGTGTCCCCTCACAAATGTCCCCTTCATTGTCCCAACACCAATGTCCCCACACAAATGTTCCCTCACGGTCCTAACACCAATGTCCCCTCACAAT...
Task1_train_48354
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
GACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTC...
GACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTC...
Task1_train_48355
This variant is present on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Benign
GGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTT...
GGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTT...
Task1_train_48356
A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCAC...
GTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCAC...
Task1_train_48357
Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing?
Benign
CTCAATCACCCTGGGGCAGGACGGTGGTCAACTAGACACCACCCCATAGCCCGGAGCCCAGGGAAATTAACCTGTCCAATCCTAAACTTGCTCCTTCGTGCCTACCCTCCCTGGCCTCTCTTCCCAGGGAAACCCCCACAGAGCCTCTGGCCATGCTCTCCCCTCTCGCCTTCTGCGTCCTGTTGCCACGGCGCCCCGCCCCGGGCGGCCCTGTGTGGCACGGTACGTGCCCTCCTGTGGTTTAAGTAGCTGGGTCTGCAGTACTTTGTGACACACTCTCCTTTAAAGTCAGGAGTCCTGTGTCTGTATCCCACCACACC...
CTCAATCACCCTGGGGCAGGACGGTGGTCAACTAGACACCACCCCATAGCCCGGAGCCCAGGGAAATTAACCTGTCCAATCCTAAACTTGCTCCTTCGTGCCTACCCTCCCTGGCCTCTCTTCCCAGGGAAACCCCCACAGAGCCTCTGGCCATGCTCTCCCCTCTCGCCTTCTGCGTCCTGTTGCCACGGCGCCCCGCCCCGGGCGGCCCTGTGTGGCACGGTACGTGCCCTCCTGTGGTTTAAGTAGCTGGGTCTGCAGTACTTTGTGACACACTCTCCTTTAAAGTCAGGAGTCCTGTGTCTGTATCCCACCACACC...
Task1_train_48358
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
CATGGACCACCTGGCCGAGACTGTGTGGCTGCAGCCCTAGGCCTGGGGCCCAAAGCTCCTGGCCCAGCCACAGAGCCAGCCCAGTGCCGGCGTGGCCACAGGCGACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCACAGAGCCAGCCCACTGCCGGTGTGGCCACAGGCCACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCAGAGCTTCTCAGGCCAGTGGGCCCCTCGTCTGCCGGGCATGAGGTTGGGCCCGCACCCCAGGATCCAGCCCATCTGCACCTGGGAGCTGAATGTTGTAGCTACCAGCCA...
CATGGACCACCTGGCCGAGACTGTGTGGCTGCAGCCCTAGGCCTGGGGCCCAAAGCTCCTGGCCCAGCCACAGAGCCAGCCCAGTGCCGGCGTGGCCACAGGCGACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCACAGAGCCAGCCCACTGCCGGTGTGGCCACAGGCCACCCTCAAAGGTAAGGCCAGAAATCAGCACCCAGCCAGAGCTTCTCAGGCCAGTGGGCCCCTCGTCTGCCGGGCATGAGGTTGGGCCCGCACCCCAGGATCCAGCCCATCTGCACCTGGGAGCTGAATGTTGTAGCTACCAGCCA...
Task1_train_48359
This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease?
Benign
GTGAGGACCAGGCTGAGCGTGCTGGCTTGTGCAGCATGAGCCAAGACTCCCCTGAGACACGGTAAATGCCCCTCGTTCCAGGGCACTTTGGAACTGGGTATCTCCTCAGCCCCAAGGTCCCGCCAATTCACTGAGGGCCCGTCTTCTCGCTGTTCCGGCCTCCGGCAGGGAGATGACCCAGGGGGAGGGGAATTGATGGGTCAGCTCCCCAGCTCCCCGCTCCGGGATGGTGCAAGGTGCACCTGACATGGTCTCCGGGGCTCCCCTGTGCTCGTCCACCCCCAGCACCCCCATGGTCTCCGGGGCTCCCCGGCGCTCGC...
GTGAGGACCAGGCTGAGCGTGCTGGCTTGTGCAGCATGAGCCAAGACTCCCCTGAGACACGGTAAATGCCCCTCGTTCCAGGGCACTTTGGAACTGGGTATCTCCTCAGCCCCAAGGTCCCGCCAATTCACTGAGGGCCCGTCTTCTCGCTGTTCCGGCCTCCGGCAGGGAGATGACCCAGGGGGAGGGGAATTGATGGGTCAGCTCCCCAGCTCCCCGCTCCGGGATGGTGCAAGGTGCACCTGACATGGTCTCCGGGGCTCCCCTGTGCTCGTCCACCCCCAGCACCCCCATGGTCTCCGGGGCTCCCCGGCGCTCGC...
Task1_train_48360
Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
AACAAGACCCAACCATCTGCTGCCTACAAGAAACACACGTCGCCTATAAAGACTCACACAGACTGAAAATAAAGGGATAGAAAAGGATATTCCATGCAAATGAGAACCAAAAAAGAGCAGTAGCAGCCATAGTTATATCAAAGTGGATTTCAAGACAAAAACTATAACAAGAGACAAAGAAGGTCATTATATAATGATAAAGGGGTCAATTCAGCAAGAGGATATAACAGTTATAAATATATATGCACCCAACACTGGAGCACCCAGATATGTAAAGCAAATATTACTAGAGCTAAATCGAGAGACAGACCCCAGTACAA...
AACAAGACCCAACCATCTGCTGCCTACAAGAAACACACGTCGCCTATAAAGACTCACACAGACTGAAAATAAAGGGATAGAAAAGGATATTCCATGCAAATGAGAACCAAAAAAGAGCAGTAGCAGCCATAGTTATATCAAAGTGGATTTCAAGACAAAAACTATAACAAGAGACAAAGAAGGTCATTATATAATGATAAAGGGGTCAATTCAGCAAGAGGATATAACAGTTATAAATATATATGCACCCAACACTGGAGCACCCAGATATGTAAAGCAAATATTACTAGAGCTAAATCGAGAGACAGACCCCAGTACAA...
Task1_train_48361
A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
AATCCAGAACACTGCCACCACCAAATGCTGCTGAGGACGTGGAGTAACAGGAACTCATTGTTGGTGGGAATGCAAATTGGCACAGCCACTTTTGTTTGTTTGATTTCTTTTTTGTCTTTTTTGAGACGAAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG...
AATCCAGAACACTGCCACCACCAAATGCTGCTGAGGACGTGGAGTAACAGGAACTCATTGTTGGTGGGAATGCAAATTGGCACAGCCACTTTTGTTTGTTTGATTTCTTTTTTGTCTTTTTTGAGACGAAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG...
Task1_train_48362
A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTA...
GGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTA...
Task1_train_48363
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
AACCCCTGGCCCCAGGAAGGAGCACATGAAGACAGCTACCTGGGAAGGTCCAGGGACACCTCAGTGCTCAGGTGAGCGAGGGGCCCAGGTGCACATGCGCCTGGAGAAGGCAAGGTGGGGAAGTGACAGCGCACACTCAGCCTCGCCCTCTGAGCCAAGCCTGAGCTGCCCCAGTCTGTGTCATCTCCACTTGGCAGACTGGTCCTGTATGGGAACAAAGACGACCCTAGACTCCAGAGTAGCTCCGGCACGCTGGCCCCATGCCAGAGCCACTTCAGCAGCAGCAGTCCTGGCACAGCCACACCATCTAAACATGCTTC...
AACCCCTGGCCCCAGGAAGGAGCACATGAAGACAGCTACCTGGGAAGGTCCAGGGACACCTCAGTGCTCAGGTGAGCGAGGGGCCCAGGTGCACATGCGCCTGGAGAAGGCAAGGTGGGGAAGTGACAGCGCACACTCAGCCTCGCCCTCTGAGCCAAGCCTGAGCTGCCCCAGTCTGTGTCATCTCCACTTGGCAGACTGGTCCTGTATGGGAACAAAGACGACCCTAGACTCCAGAGTAGCTCCGGCACGCTGGCCCCATGCCAGAGCCACTTCAGCAGCAGCAGTCCTGGCACAGCCACACCATCTAAACATGCTTC...
Task1_train_48364
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
TCTTTTTTTTGAGACGGAGTCTGGCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGAACTCGGCTCACTGCAACCGCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATGACAGGCGCGAGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCCAGGTGCTGGGACTACAAGCGTAAGCCACCACGCCCGGCCAATTTCACTTTTTCTGTATTGTTTGAACG...
TCTTTTTTTTGAGACGGAGTCTGGCTCTGTCTCCCAGACTGGAGTGCAGTGGCACGAACTCGGCTCACTGCAACCGCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATGACAGGCGCGAGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCCAGGTGCTGGGACTACAAGCGTAAGCCACCACGCCCGGCCAATTTCACTTTTTCTGTATTGTTTGAACG...
Task1_train_48365
A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
GCGCGCTTCCTTCCTTCCAGATGTTCCAGAAGGAGAAGGCGGTGCTGGACGAGCTGGGCCGACGCACGGGGACCCGGCTGCAGCCCCTGACCCGGGGCCTCTTCGGAGGGAGCTGAGGGCCGCGTTCCTTCTGAAAGCGGGACGCGGGAGGGGTGGAGGCTGCGGGGAGCCGGGGTCGCACACGAATAAATAACGAATGAACGTACGAGGGGAACCTCCTCTTATTTCCTTCACGTTGCATCGGGTATTTTTCGTTATTGTAAATAAAACGGTTCCGAGCCGTGGCATCGAGAGGGCGTCTGGAGTTCAGGGAACGCGTG...
GCGCGCTTCCTTCCTTCCAGATGTTCCAGAAGGAGAAGGCGGTGCTGGACGAGCTGGGCCGACGCACGGGGACCCGGCTGCAGCCCCTGACCCGGGGCCTCTTCGGAGGGAGCTGAGGGCCGCGTTCCTTCTGAAAGCGGGACGCGGGAGGGGTGGAGGCTGCGGGGAGCCGGGGTCGCACACGAATAAATAACGAATGAACGTACGAGGGGAACCTCCTCTTATTTCCTTCACGTTGCATCGGGTATTTTTCGTTATTGTAAATAAAACGGTTCCGAGCCGTGGCATCGAGAGGGCGTCTGGAGTTCAGGGAACGCGTG...
Task1_train_48366
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TTAATAGAGATGCAGTGGTGGCTCACAGTGGCTTTAATTTGCATTTCCCTAATGACGGATGGTGTTGAGCATCTGGGGCAGACCCGTGGGTAGGATGGCCGCATCCCAACAGGCGTTCTCAATTCTGTCCCAGTGACCTCTCTATCCCAGCCCCCATAACAACTTGGTTAATTACTGTCCTCCATCATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTG...
TTAATAGAGATGCAGTGGTGGCTCACAGTGGCTTTAATTTGCATTTCCCTAATGACGGATGGTGTTGAGCATCTGGGGCAGACCCGTGGGTAGGATGGCCGCATCCCAACAGGCGTTCTCAATTCTGTCCCAGTGACCTCTCTATCCCAGCCCCCATAACAACTTGGTTAATTACTGTCCTCCATCATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTG...
Task1_train_48367
This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTGCCTGGCCTTGTCCCTTCTTCCTCAGTTCACAGAAAGGACGGCAGAGACCAAGAGTTGGCAAACTTTTGCCAAGAGCTACATCGTAAACAGCTTCCAAAGCAGGACACACCGTCAGCTCTTGAGTTGGCCATTGCAGCATGAAAGCAGCTACGGACAATGTGGAAACAAATGGGCCTGGCCCAATA...
CATATACTGTAGTACATATATAGAACACGTCATGAAAATGAACTTTGGTTTCTCCTCTGAGTGAAAATAAATTATAGCCAAATATTCGAGCATGAAAGGCCTTCTGTTTTATCCTCTTCTAGCTGTGTGAGGCTGCCTGGCCTTGTCCCTTCTTCCTCAGTTCACAGAAAGGACGGCAGAGACCAAGAGTTGGCAAACTTTTGCCAAGAGCTACATCGTAAACAGCTTCCAAAGCAGGACACACCGTCAGCTCTTGAGTTGGCCATTGCAGCATGAAAGCAGCTACGGACAATGTGGAAACAAATGGGCCTGGCCCAATA...
Task1_train_48368
Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Benign
GCCGGGTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGAGAGGGTTTCACCATGTTGGCCAGGATGTTCTCAATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAACCACCGCGCCCGGCCCGAGCTCCTGACATTGAAGGGAGATGTTGCTGCACTCATGTGGCCGCCCACCCTGGGGACGAGTCCCCGCACAGGCAGCCCTTGTGGAGCCCACCAT...
GCCGGGTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGAGAGGGTTTCACCATGTTGGCCAGGATGTTCTCAATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAACCACCGCGCCCGGCCCGAGCTCCTGACATTGAAGGGAGATGTTGCTGCACTCATGTGGCCGCCCACCCTGGGGACGAGTCCCCGCACAGGCAGCCCTTGTGGAGCCCACCAT...
Task1_train_48369
A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GCCTGGCCTTGTGGGGTCAGCGCTGACCGATCCCTCTTGTCACGGACAGAGCTCTCTCGGTCTCTGCTGTGGCTGGCTTTCTCCGAGCTGCAGGTTTGGGATGTGAGCTTTTACCCTTAGGATCGCAGTGGCAGGGATAAAACCGCACACGTCACTGCTGGGGTGGGGGCCTTGAGCTCATTAGGGTTTCACCTGGACACTTTGCTTTTTCCAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGTAGACAGGAAT...
GCCTGGCCTTGTGGGGTCAGCGCTGACCGATCCCTCTTGTCACGGACAGAGCTCTCTCGGTCTCTGCTGTGGCTGGCTTTCTCCGAGCTGCAGGTTTGGGATGTGAGCTTTTACCCTTAGGATCGCAGTGGCAGGGATAAAACCGCACACGTCACTGCTGGGGTGGGGGCCTTGAGCTCATTAGGGTTTCACCTGGACACTTTGCTTTTTCCAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGTAGACAGGAAT...
Task1_train_48370
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GGCCACCAGGGGAGACGCGAGGGGCACGTGCCCTACCGACCTTGCTGCTGAGAGAATTGAGGAGAGGTCTGCCCGGTCCAGGGCCCTGCCGCCCTGAGGAGCACCAGTCCCTGTCAGTGCCACCAATTCTTGTATGTCTTCCGGAGGCCTGACTGAGAGACGGGTGTGGGCGGGAGAGCATGTGAGCACGCCAGTGGGCTGGCGGGGTTCACCAGGGCGCAGCGTGTGGTCTCATGAACCTAGTGAGGTTTGAGTTTTCTTTGTGCATAGCAGGAAACACCTTTGAGGGTTATAGCTGCGAGCGAGGTAGCTTGGCTCAC...
GGCCACCAGGGGAGACGCGAGGGGCACGTGCCCTACCGACCTTGCTGCTGAGAGAATTGAGGAGAGGTCTGCCCGGTCCAGGGCCCTGCCGCCCTGAGGAGCACCAGTCCCTGTCAGTGCCACCAATTCTTGTATGTCTTCCGGAGGCCTGACTGAGAGACGGGTGTGGGCGGGAGAGCATGTGAGCACGCCAGTGGGCTGGCGGGGTTCACCAGGGCGCAGCGTGTGGTCTCATGAACCTAGTGAGGTTTGAGTTTTCTTTGTGCATAGCAGGAAACACCTTTGAGGGTTATAGCTGCGAGCGAGGTAGCTTGGCTCAC...
Task1_train_48371
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
GTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAG...
GTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAG...
Task1_train_48372
Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
GTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGT...
GTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGT...
Task1_train_48373
With a mutation on Chromosome 21, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCC...
GAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCC...
Task1_train_48374
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
GATGAATTTAATGAATTGGCTATACAGAAAGAGTCGGCAGATAGACAAGTGTTAATGCAGGAAGAAGAAATTAAACGTCTGGAGGAGATGAACATCAACATCAGGAAAAAAGTGGCCCAGCTCCAGGAAGAAGTGGAAAAACAGAAAAACATCGTGAAAGGGCTGGAACAGGTAAAGCGTCTCCATGTTGTGGTTGGGCACGTGGTGAGGTGTCCCGCAGGCATGGCTTCATCGCTGAGCTGGCAGGGAGTGGGCAGGGCGTCCTTCTTCACTGGCAGCCACCACGTCTGCACCAGAAACACTGGCGTCAGGGAGAAACA...
GATGAATTTAATGAATTGGCTATACAGAAAGAGTCGGCAGATAGACAAGTGTTAATGCAGGAAGAAGAAATTAAACGTCTGGAGGAGATGAACATCAACATCAGGAAAAAAGTGGCCCAGCTCCAGGAAGAAGTGGAAAAACAGAAAAACATCGTGAAAGGGCTGGAACAGGTAAAGCGTCTCCATGTTGTGGTTGGGCACGTGGTGAGGTGTCCCGCAGGCATGGCTTCATCGCTGAGCTGGCAGGGAGTGGGCAGGGCGTCCTTCTTCACTGGCAGCCACCACGTCTGCACCAGAAACACTGGCGTCAGGGAGAAACA...
Task1_train_48375
This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign?
Benign
CATAGTTTTACTTTGCATTCAGGTCTCCTTGAATATGCTTGCATACGCTTTTTGCTTTTTATTTTTCTTTTTTGACACTATCTTGCTCTGTCGCCCAGGCTGCGGTGCAGTGGCGCAGTCTCGGCTTACCGCAACCTCTGCCTCCAGAGTTTAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGAACTACAGGTGCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGT...
CATAGTTTTACTTTGCATTCAGGTCTCCTTGAATATGCTTGCATACGCTTTTTGCTTTTTATTTTTCTTTTTTGACACTATCTTGCTCTGTCGCCCAGGCTGCGGTGCAGTGGCGCAGTCTCGGCTTACCGCAACCTCTGCCTCCAGAGTTTAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGAACTACAGGTGCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGT...
Task1_train_48376
A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCACCCTCCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCC...
TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCACCCTCCTCAGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCC...
Task1_train_48377
This variant is located on Chromosome 21. Evaluate its biological effect and specify any disease association.
Benign
AGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCC...
AGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCC...
Task1_train_48378
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACAC...
TCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACAC...
Task1_train_48379
A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease.
Benign
GCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCC...
GCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCC...
Task1_train_48380
A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
ACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAG...
ACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAG...
Task1_train_48381
A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
GAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTTTCTCTCTTCTTTTTGTAATTCCTGTTATTCAACTATATCAGGCCTCCAAGATTGATTG...
GAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTTTCTCTCTTCTTTTTGTAATTCCTGTTATTCAACTATATCAGGCCTCCAAGATTGATTG...
Task1_train_48382
A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
GCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCC...
GCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCC...
Task1_train_48383
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
TCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAG...
TCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAG...
Task1_train_48384
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
GAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGC...
GAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGC...
Task1_train_48385
Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
AGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGA...
AGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGA...
Task1_train_48386
A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
CAACTAGATACACATTTAGGCTCATTTGTTTCACTTTATTTTCAATTTTGGGGATTTCTCTTTTATTCAGTTTTGATTTATAACTAAGGAAATATTTACAAGATTCCAAAGTTAGATCTACAAACAAAGAAATATTTAAAGAAATCTAGGACCAACATGTGAGGATAGACAGAGAGAGCTTCTATTCCTTTTACCCCCACTGAAAACAAACAAAAACATGAAACTTAATTTGTTACTTTATAAACAGTCTTGTAAAAAGTATTTTTACTGCTGTCCTTCCTGTGTAGATGTCCACACTGAAGCCGTGCAAGCAGCTTTGG...
CAACTAGATACACATTTAGGCTCATTTGTTTCACTTTATTTTCAATTTTGGGGATTTCTCTTTTATTCAGTTTTGATTTATAACTAAGGAAATATTTACAAGATTCCAAAGTTAGATCTACAAACAAAGAAATATTTAAAGAAATCTAGGACCAACATGTGAGGATAGACAGAGAGAGCTTCTATTCCTTTTACCCCCACTGAAAACAAACAAAAACATGAAACTTAATTTGTTACTTTATAAACAGTCTTGTAAAAAGTATTTTTACTGCTGTCCTTCCTGTGTAGATGTCCACACTGAAGCCGTGCAAGCAGCTTTGG...
Task1_train_48387
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
ATGACAGGTAATGCTCCCAGCCTGCCTGGGCCCCATGGATACCCAGTGGCAAAGTGATGCAAACCAGGTCTGCACTGACTATGCACCCCCGGGACCCAGGCATTAGAGGACGGCGGGGCCAAGTCAGGCCTACCGGGACACCTGGATGGGCACATGAGAGGACAGCTGGCTACATTGGGCCATCTGCACCAAGAGGAAGAGGAGAGCTGTGTGCCCCACTCCGGGCGTGCCTCCCAGGGGAGCTCAGTGTCTATCTCTGTGCGCCCGTGTCCCCAGGGCTGCAGTTAACATCCCTTTATCTGTCACACAACCAGGAAGAA...
ATGACAGGTAATGCTCCCAGCCTGCCTGGGCCCCATGGATACCCAGTGGCAAAGTGATGCAAACCAGGTCTGCACTGACTATGCACCCCCGGGACCCAGGCATTAGAGGACGGCGGGGCCAAGTCAGGCCTACCGGGACACCTGGATGGGCACATGAGAGGACAGCTGGCTACATTGGGCCATCTGCACCAAGAGGAAGAGGAGAGCTGTGTGCCCCACTCCGGGCGTGCCTCCCAGGGGAGCTCAGTGTCTATCTCTGTGCGCCCGTGTCCCCAGGGCTGCAGTTAACATCCCTTTATCTGTCACACAACCAGGAAGAA...
Task1_train_48388
This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
AAAATTCAAAGTCAAATTTGGAGCGGCCTCTAAACTTCCTGACCTGACATGAGCACATCAGTCCTGCAGGCCAGCTTCTGAGGGACGTTATTTTAATGTCACTGAATCAAGAGAGTCTCGTGTCATGTTTTCTTTAACAAGGGACATAGCTCTCCTCCTTCCAGATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAGGTGAGCAGGGGCCCATGGGAGGGGCTTGAGCTCTCCAGCCTCACCAGCTTCACCTTCCTTCCCTTTTTGCTTCAGATTTTG...
AAAATTCAAAGTCAAATTTGGAGCGGCCTCTAAACTTCCTGACCTGACATGAGCACATCAGTCCTGCAGGCCAGCTTCTGAGGGACGTTATTTTAATGTCACTGAATCAAGAGAGTCTCGTGTCATGTTTTCTTTAACAAGGGACATAGCTCTCCTCCTTCCAGATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAGGTGAGCAGGGGCCCATGGGAGGGGCTTGAGCTCTCCAGCCTCACCAGCTTCACCTTCCTTCCCTTTTTGCTTCAGATTTTG...
Task1_train_48389
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TGTGCCACGTCCTGGACACCGAAGGGAGTGCCACTGGTGTGTGAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGA...
TGTGCCACGTCCTGGACACCGAAGGGAGTGCCACTGGTGTGTGAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGA...
Task1_train_48390
A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
GAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGAGCAGGACGGTGCCTCCCAGCCCTGAGCCGCAGGGAGTGGGCC...
GAGTGATGGAGTAAGAGGTGGGCTGTGTTTTGGAGGCCCCTGGGTATGTGTGGCCGGGACTGGAGGCCAGGGACTGGCTGTGGTCCAGCCCCAGCATGCAGAGAGGCCTGGGACATTCTGTGTGAGGGGAGGCCCCTCTGTGTGGGAGGTGCACAGACTTCCAGGACTGACCATGGCTTTATTGTCAGGATGCAGGAGCCAGGGCTTGGCATGGGGCAGGTGTGGGGGATGCAGAGCAGGGCCAGCAGGCAGGATGTGCTGATGGGGGCCTGGCGTGAGCAGGACGGTGCCTCCCAGCCCTGAGCCGCAGGGAGTGGGCC...
Task1_train_48391
A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
GGTGGGGCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATT...
GGTGGGGCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATT...
Task1_train_48392
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATTCCTTTT...
GCCTAGTGGGAGGTGTTTGGGTCATGGGTGTGGATCCCTCATGAATAGATGAATGCCCTTCCTCGTGGGTAGATAAGTGAGTTCTAGCTCTTTCAGGTCCCAACAAGAGCTGGTTGTGAAAAAGAGCCTGGCACGCCCACTTGCCTCTGCTCCCACCCTGTGGTCTCTGCACGTGCCAGCTCCCCTTTGCTTTCCACCGTGAGGGGAAATAGCCTGAAGCCCTCACTGGATGCCCAATCCTGAACTTTCCCAACCAGCAGAACCATGAGCCAAATAAACCTCATTTCTTTATAAATTACCCAGCCTCAGATATTCCTTTT...
Task1_train_48393
Chromosome 22 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
CAGGTATGCATCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGGGTACAATAGTGTCATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCATGTGCCATCACATCCGGCTACTGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGCTGATCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTAAAGGCTTGAGC...
CAGGTATGCATCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGGGTACAATAGTGTCATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCATGTGCCATCACATCCGGCTACTGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGCTGATCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTAAAGGCTTGAGC...
Task1_train_48394
A mutation on Chromosome 22 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TCCTCCCAAAGTGCTGGAGATAACAGACATGAGTCACCACACTTAGCATATTCACTATTTTTATGAGTTCAACGTTTTTAGATTTTACATGTAATTGTGACCATGCTATATTTGTTTTTCTGTGCCTGTCTTATTTCACTGAGCATGTTTTCCAATTCCATTCATTTTATCATAAATAAATAACAGCACTTTCTCTTTTTTTAAGGCTGTATAGTATATTCCATTGTGTATATGTGCCACGCTTTATCTGCTGATCTGTTGATGAGCACTTGGGTTGTTTCCTTATCTTGGCTATTGTGAATAATGCTGACATGAATATA...
TCCTCCCAAAGTGCTGGAGATAACAGACATGAGTCACCACACTTAGCATATTCACTATTTTTATGAGTTCAACGTTTTTAGATTTTACATGTAATTGTGACCATGCTATATTTGTTTTTCTGTGCCTGTCTTATTTCACTGAGCATGTTTTCCAATTCCATTCATTTTATCATAAATAAATAACAGCACTTTCTCTTTTTTTAAGGCTGTATAGTATATTCCATTGTGTATATGTGCCACGCTTTATCTGCTGATCTGTTGATGAGCACTTGGGTTGTTTCCTTATCTTGGCTATTGTGAATAATGCTGACATGAATATA...
Task1_train_48395
Here is a genetic alteration on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Benign
ACTCACACCACTTAACAACAACAAATCAAGTAAGCCTATTAAAAATGGGCAAAGGACCTGAATTTACATTTCTCAAAAAAAGACAAAAATGGTCAAGTCTATGTTTAACTATGTTTAATTTTATTTATTCATTTATTTTATTTATTTATTTTGAGATGGAGCCTCACTCTGTCACCCACGCTGGAGTGCAGTGGCGCGATCTCACCTCCCCACAACCTGTGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCAACACGCCCAGCTAATTTTTATTGTATTTTTAGT...
ACTCACACCACTTAACAACAACAAATCAAGTAAGCCTATTAAAAATGGGCAAAGGACCTGAATTTACATTTCTCAAAAAAAGACAAAAATGGTCAAGTCTATGTTTAACTATGTTTAATTTTATTTATTCATTTATTTTATTTATTTATTTTGAGATGGAGCCTCACTCTGTCACCCACGCTGGAGTGCAGTGGCGCGATCTCACCTCCCCACAACCTGTGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCAACACGCCCAGCTAATTTTTATTGTATTTTTAGT...
Task1_train_48396
This alteration occurs on Chromosome 22. Is it associated with a disease or is it a benign variant?
Benign
CAGCATAAGTCCATGTGCAGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGCAAAACCTTGTCTCTACAAGGTTTTACAATGTCAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCACAGGTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGGGTCAAAATCATGCCAGGGCACTCCAGCCTTGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAACAACAACAAC...
CAGCATAAGTCCATGTGCAGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGCAAAACCTTGTCTCTACAAGGTTTTACAATGTCAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCACAGGTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGGGTCAAAATCATGCCAGGGCACTCCAGCCTTGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAACAACAACAAC...
Task1_train_48397
Here is a mutation located on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CAGGCAGACATTTACCTGTCTGTCTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATG...
CAGGCAGACATTTACCTGTCTGTCTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATG...
Task1_train_48398
A genomic variant on Chromosome 22 is under review. What is the biological outcome — benign or pathogenic?
Benign
CTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATGCAATAGAGGGAAAGGGGCACAGG...
CTCCTTTTGCTTCAGCTGTGTCATGGGAGTACAGGTGGTGGTGGCTGTTAGTATACCAAGCCTTCTACATAAAGTGTGTCCTGCAGATGAGCTGCACTGGTATCCTCAGTCTGTGTCAGCAAGGCAGGACTGTAGGACCCACCCTAGGTTCGCTGATGAAAACAAGCATCTCAGCAAGCTCCCCAGGTGTTCCACGTGCATGTGAAAGTATGAAGGGCACCAACACGAAGCACTGTGTCTTTTACAAGAACAACGACTGGAAGACCTCAGTTCTCTCTGTCCAGGCATTCATACATGCAATAGAGGGAAAGGGGCACAGG...
Task1_train_48399
A genomic variant on Chromosome 22 is under review. What is the biological outcome — benign or pathogenic?
Benign
CTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGA...
CTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGA...