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_48200
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
TATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCA...
TATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCA...
Task1_train_48201
A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
ATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCAT...
ATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCAT...
Task1_train_48202
A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CATCCTCTATTACAGATTTCCTCTAACACAGAATCAACAGGACTCTAATATTTCATACGTGGCTGTCACTGTGCTTTGAGGTTAATCTATATGGTCGTTTAAGCCCCGCCCCCCTAGAGGTTATTCCTTATCCCCACTTTACAGATGCGCAAACTGAGACACAGGAAGATAGAATAGCTCGGCCGGGATCACCCAGCTTGTGAGTGACACCGAGCAGGTACTGGAACCCGGGTTTGTTTGACCTCAGCGCACAGGCTCTAAACCTCTGCTCCAACTCAAAGTATGCGCCAAGTCAGCGTGCATGGGTAACCCGATCCGGA...
CATCCTCTATTACAGATTTCCTCTAACACAGAATCAACAGGACTCTAATATTTCATACGTGGCTGTCACTGTGCTTTGAGGTTAATCTATATGGTCGTTTAAGCCCCGCCCCCCTAGAGGTTATTCCTTATCCCCACTTTACAGATGCGCAAACTGAGACACAGGAAGATAGAATAGCTCGGCCGGGATCACCCAGCTTGTGAGTGACACCGAGCAGGTACTGGAACCCGGGTTTGTTTGACCTCAGCGCACAGGCTCTAAACCTCTGCTCCAACTCAAAGTATGCGCCAAGTCAGCGTGCATGGGTAACCCGATCCGGA...
Task1_train_48203
A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
CACTCAGGTGTAGCGGGCAGTTAGTCCCTGAGCGGGACTTGAACCTGCCTCCTGTCCTTCTATCTCCCATGCTGCTCCCGGAGAGAAGCCACTGTACCCACTTTGCCCAAAGCAACCTGCTTTCCCTGGGGCAGAGCATGCAGTGGATCGGGGAGGGGCAGCAGTGTCCATGTGGCAGCTGGAACACTGGAGACCTTGGCCATTAATGAAGTTTTACTTCTTTCTGCTGATGCATCTCAGGTGCCTGCGCCGGCCTTTCATTTCGGTGCCTGTGTGTTTATTTCTGCAAGGCAGGGAGGCTTCCCAGTGCCCTCAGCCAC...
CACTCAGGTGTAGCGGGCAGTTAGTCCCTGAGCGGGACTTGAACCTGCCTCCTGTCCTTCTATCTCCCATGCTGCTCCCGGAGAGAAGCCACTGTACCCACTTTGCCCAAAGCAACCTGCTTTCCCTGGGGCAGAGCATGCAGTGGATCGGGGAGGGGCAGCAGTGTCCATGTGGCAGCTGGAACACTGGAGACCTTGGCCATTAATGAAGTTTTACTTCTTTCTGCTGATGCATCTCAGGTGCCTGCGCCGGCCTTTCATTTCGGTGCCTGTGTGTTTATTTCTGCAAGGCAGGGAGGCTTCCCAGTGCCCTCAGCCAC...
Task1_train_48204
A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease.
Benign
GAATCTGAATTTTCCAAGGGGCCAGTGTAGAGTGACACAGGTGTCCGAGGCCACCTTTCCATCTTCAGACACCCCCCCGTCTCTCTGCACAGGGAGTTGGCCTTCCAGTAGGTGTTGCTCTTCTGTCTTGACGTCTCCTGGAAAGATTTTTATCTCTATTTTCCTGTGGTGGTGTTTTCCACGAGCTAATTCTTTCTATCTTTAAACTCATTGGCTGAAAACAAATGTGGGAATATTTTTGCATTAGTAACAATTATATTATTTTTAAATGTTAAGCAACACATCATACCAGCTATCACAGAATGTAGATGATTCTACTC...
GAATCTGAATTTTCCAAGGGGCCAGTGTAGAGTGACACAGGTGTCCGAGGCCACCTTTCCATCTTCAGACACCCCCCCGTCTCTCTGCACAGGGAGTTGGCCTTCCAGTAGGTGTTGCTCTTCTGTCTTGACGTCTCCTGGAAAGATTTTTATCTCTATTTTCCTGTGGTGGTGTTTTCCACGAGCTAATTCTTTCTATCTTTAAACTCATTGGCTGAAAACAAATGTGGGAATATTTTTGCATTAGTAACAATTATATTATTTTTAAATGTTAAGCAACACATCATACCAGCTATCACAGAATGTAGATGATTCTACTC...
Task1_train_48205
Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Benign
CGCGTGTGGGGACGCTGCAGATTTCTTCCTGGCTTTCCACCGCTGCAGCTGCAGAGCTCTCAGCTTTTCTCGGAGCTCCATGTTCTGCTCCCTCAAAGCATCTATATGACTCCGGAGTTTTCCATGAACATCAGCCCACAGAGACTTCTGTCTCCCAAGCTCTTGGTGGAGTCTGATGATCTGCTGCTGTAATGGCTGTTATTGGGAAGAGAACACCAGAAAAACCTCTCAGATGTCACAATGGGCACATTTATCTGCAAAATACTCAAGCCCTCTCTGATGTAAGACCAACACTATTTCTGGAATAAAAGACACCCGAT...
CGCGTGTGGGGACGCTGCAGATTTCTTCCTGGCTTTCCACCGCTGCAGCTGCAGAGCTCTCAGCTTTTCTCGGAGCTCCATGTTCTGCTCCCTCAAAGCATCTATATGACTCCGGAGTTTTCCATGAACATCAGCCCACAGAGACTTCTGTCTCCCAAGCTCTTGGTGGAGTCTGATGATCTGCTGCTGTAATGGCTGTTATTGGGAAGAGAACACCAGAAAAACCTCTCAGATGTCACAATGGGCACATTTATCTGCAAAATACTCAAGCCCTCTCTGATGTAAGACCAACACTATTTCTGGAATAAAAGACACCCGAT...
Task1_train_48206
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
AGGAAAAAGAAATAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGGTAGGGAGGGAGAGAGGGAGGAAGGAAGGAGAAAGAGAAAGAAAAAGAAAGAAAGAGGAAAGAAAGAGAGAGAGAGAAAGAAGGAAAGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGGAGAGGTTTGAAGAGGCTCACTCTGCCTGAAGACAGGAAGGGACCAGGAGCCGAGGCGCTCTCAGCCCCAGAAAGGGCAAGGAAGCAGAGCCCACCTCCAGCCTCCAGAACGAATGAGCCTGCCAAGGCCTGGGCTGTA...
AGGAAAAAGAAATAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGGTAGGGAGGGAGAGAGGGAGGAAGGAAGGAGAAAGAGAAAGAAAAAGAAAGAAAGAGGAAAGAAAGAGAGAGAGAGAAAGAAGGAAAGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGGAGAGGTTTGAAGAGGCTCACTCTGCCTGAAGACAGGAAGGGACCAGGAGCCGAGGCGCTCTCAGCCCCAGAAAGGGCAAGGAAGCAGAGCCCACCTCCAGCCTCCAGAACGAATGAGCCTGCCAAGGCCTGGGCTGTA...
Task1_train_48207
A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
CCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTGGAGTCTCCCTTCTGGGCCCCAGAGTGGTCACAGGCCTCAATGTTGTGAGCTGCAGATTCTATACTCTCCCTTCTGGTTTGCCTACAGCCCTCTCACACATTTGTAAATATAGTCCTGCAACCCCTAATGATGTCTTGGGCAAAGATGGACCTTTTATATGACGATAGC...
CCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTGGAGTCTCCCTTCTGGGCCCCAGAGTGGTCACAGGCCTCAATGTTGTGAGCTGCAGATTCTATACTCTCCCTTCTGGTTTGCCTACAGCCCTCTCACACATTTGTAAATATAGTCCTGCAACCCCTAATGATGTCTTGGGCAAAGATGGACCTTTTATATGACGATAGC...
Task1_train_48208
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
TGTACATTTATTTCCATCTGCAATTGTTTATTGCATTTTTTGAAATAAAGTCATTTAATTTTTCATCAACAGAATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCA...
TGTACATTTATTTCCATCTGCAATTGTTTATTGCATTTTTTGAAATAAAGTCATTTAATTTTTCATCAACAGAATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCA...
Task1_train_48209
Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
GAGGAAGCCGCGGAACCCCCAGCGTCCGTCCATGGCGTGGAGCCTTGGGAGCTGGCTGGGTGGCTGCCTGCTGGTGTCAGGTGAGGGGTCCGCGGGGAGGGGGCGCGCTTGGGAACCGGGAGGCCCCGCGAGATGCCGCCCCTGATCCCATCCCTGGGCGCCCTGCAAGTGACTTAAGAGCCTTCGGGGCCTCGGGAGAGAAGATGCAAACGCCACGGCCGGCTGCTGAGACGCAACTAGGCTGCTGCTGCCGTCGATTCTGTAACAGGAGAAAGCCCCATCCGCGCCCGGATTACAGACCGTCTGGGCCCTAAACTCAG...
GAGGAAGCCGCGGAACCCCCAGCGTCCGTCCATGGCGTGGAGCCTTGGGAGCTGGCTGGGTGGCTGCCTGCTGGTGTCAGGTGAGGGGTCCGCGGGGAGGGGGCGCGCTTGGGAACCGGGAGGCCCCGCGAGATGCCGCCCCTGATCCCATCCCTGGGCGCCCTGCAAGTGACTTAAGAGCCTTCGGGGCCTCGGGAGAGAAGATGCAAACGCCACGGCCGGCTGCTGAGACGCAACTAGGCTGCTGCTGCCGTCGATTCTGTAACAGGAGAAAGCCCCATCCGCGCCCGGATTACAGACCGTCTGGGCCCTAAACTCAG...
Task1_train_48210
This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign?
Benign
AGCACCCAGGGAAGCAATATGAGAAAAGAATATAAGAACAGAGACTGTGACAAAGCAAATTTAGATCCACAACATTGACATTTTTATAAAAAGGTTTTTGGAGGTTTATACTGAAAAGTTTTGTAACAATTATATTCATGTGTATCAGATTTGTAAGGTGTTCAAACCATTTTAACATATCCATTTGGCTTATAATTTTCATTACATTTTTAGTTTGAAAGAGTTTAATTGATTAAATTTTTAATCATTGTTTAAATACTCGAGGAACCCTAGTTTGTAAAATTCTAGTTTTTGATATAATAGTTATCTGAGCAGAATGT...
AGCACCCAGGGAAGCAATATGAGAAAAGAATATAAGAACAGAGACTGTGACAAAGCAAATTTAGATCCACAACATTGACATTTTTATAAAAAGGTTTTTGGAGGTTTATACTGAAAAGTTTTGTAACAATTATATTCATGTGTATCAGATTTGTAAGGTGTTCAAACCATTTTAACATATCCATTTGGCTTATAATTTTCATTACATTTTTAGTTTGAAAGAGTTTAATTGATTAAATTTTTAATCATTGTTTAAATACTCGAGGAACCCTAGTTTGTAAAATTCTAGTTTTTGATATAATAGTTATCTGAGCAGAATGT...
Task1_train_48211
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
CTGTAGTAGTGGTTCTCAAAGAGTGATCCTCAAGGCCCTTTCAGGGGGCTGTAAAGACAAAGCTATATTTATGACAAATCTAAGACTTAGTTGCCTTTTTAATTTTTGTTCTTTCTTGTATTCACAGTGGAGTTTTCCAGAGGAGGCTGTTTGATGTGTGATGTGGTGATATGGTCACTGATTTAACATAGAATTCAATGTGAAATTCATCTGCCTTCTTTATTAATCCAAACATTCAAAAGATTTGGAAAAAAAATGTAAAACAGCACCACTCTGAAGTTTCTATGTTCCTTTTGGCAAATGTTTGTTACCATAAAATA...
CTGTAGTAGTGGTTCTCAAAGAGTGATCCTCAAGGCCCTTTCAGGGGGCTGTAAAGACAAAGCTATATTTATGACAAATCTAAGACTTAGTTGCCTTTTTAATTTTTGTTCTTTCTTGTATTCACAGTGGAGTTTTCCAGAGGAGGCTGTTTGATGTGTGATGTGGTGATATGGTCACTGATTTAACATAGAATTCAATGTGAAATTCATCTGCCTTCTTTATTAATCCAAACATTCAAAAGATTTGGAAAAAAAATGTAAAACAGCACCACTCTGAAGTTTCTATGTTCCTTTTGGCAAATGTTTGTTACCATAAAATA...
Task1_train_48212
This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease?
Benign
GCTCCAGGTTTGGAAGAAGCCTGTGTAGGATCTGTGTTTCATTTCTGGCTTTGATGTCTGGGCGTCAGTTTCCCTGGGGTTAATTATTAGCTTAATGTGAAGGCAGCATTGTGGAAATTTCTCTGCATAGTTCGGATGCTATTCAGATCTGTCTGTGTGACTGTCATGCAGGCCTCTCTGTGTGACTGTGAGGGAGCATTGACCTGCCACCACCCCCCTCTGGAAGCATCCAGTCCCCAACTGGCTTTGGGCATTGCTAGGTCATAGCAGCCACAGCACACCTGGTGGGCCTGCCTCTTGCCACGCAGCTTTACCTGTCT...
GCTCCAGGTTTGGAAGAAGCCTGTGTAGGATCTGTGTTTCATTTCTGGCTTTGATGTCTGGGCGTCAGTTTCCCTGGGGTTAATTATTAGCTTAATGTGAAGGCAGCATTGTGGAAATTTCTCTGCATAGTTCGGATGCTATTCAGATCTGTCTGTGTGACTGTCATGCAGGCCTCTCTGTGTGACTGTGAGGGAGCATTGACCTGCCACCACCCCCCTCTGGAAGCATCCAGTCCCCAACTGGCTTTGGGCATTGCTAGGTCATAGCAGCCACAGCACACCTGGTGGGCCTGCCTCTTGCCACGCAGCTTTACCTGTCT...
Task1_train_48213
A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GAATCACTATGATCTTGGCCATCAAATAAAAAAAAATCACATATGCATTTAAGAACATACTGAATATTTGCAAGAATGTTCATAGCAGTGTTACTTACAATAGAGGGAAAAAAATCAGGCTACATCCATCTGAGAGAATACAATACTCTTATTACTTTACCCCTCTATCCATAAAGGTTAAACATAAACTTCTTCTAATTAATAAGATAACAATAAAAATTCCTCAACTGTTTTCAGACTTTTCAACAACAAAGCTATGATACAAAATGAGCTGTAGCTTCTATCTTTTCTGGTTTCTCTTTAACCAGCTTTCTGACATC...
GAATCACTATGATCTTGGCCATCAAATAAAAAAAAATCACATATGCATTTAAGAACATACTGAATATTTGCAAGAATGTTCATAGCAGTGTTACTTACAATAGAGGGAAAAAAATCAGGCTACATCCATCTGAGAGAATACAATACTCTTATTACTTTACCCCTCTATCCATAAAGGTTAAACATAAACTTCTTCTAATTAATAAGATAACAATAAAAATTCCTCAACTGTTTTCAGACTTTTCAACAACAAAGCTATGATACAAAATGAGCTGTAGCTTCTATCTTTTCTGGTTTCTCTTTAACCAGCTTTCTGACATC...
Task1_train_48214
A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
CTGTCCCAGTTAAATAACTCCCCATTCCCCACTACCCCAGACCCTGGCAACCATCTGTTTAAAAGTAGATATACTGACATTTTGCTGCAACTTTTCTCAGTTCAATTTTGGTATGAACAAGAGAGGAATGCCTAATCAAGTCAAAAAAGTGAAAATTAGATTTGTAAAAACCGTACACAAGTATCCCTAAATAATTAAACTGAGTTCTTAATTTCAGTAATATATAACTGTATCTGTTTCCTAATAGCTGAGGACAGTAAACACTATGACAAAAGCAAAACCAGGTAAAGATACTCAGTGCATCATTTCCTTCTGTATAG...
CTGTCCCAGTTAAATAACTCCCCATTCCCCACTACCCCAGACCCTGGCAACCATCTGTTTAAAAGTAGATATACTGACATTTTGCTGCAACTTTTCTCAGTTCAATTTTGGTATGAACAAGAGAGGAATGCCTAATCAAGTCAAAAAAGTGAAAATTAGATTTGTAAAAACCGTACACAAGTATCCCTAAATAATTAAACTGAGTTCTTAATTTCAGTAATATATAACTGTATCTGTTTCCTAATAGCTGAGGACAGTAAACACTATGACAAAAGCAAAACCAGGTAAAGATACTCAGTGCATCATTTCCTTCTGTATAG...
Task1_train_48215
Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGA...
TCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGA...
Task1_train_48216
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
ATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCT...
ATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCT...
Task1_train_48217
Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GTTTGGTTCCATGACATACCTCAGTATGTTTCAATTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCAGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATCTTTGTATTATTAGTAGAGACACAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGATCTTGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACAC...
GTTTGGTTCCATGACATACCTCAGTATGTTTCAATTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCAGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATCTTTGTATTATTAGTAGAGACACAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGATCTTGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACAC...
Task1_train_48218
An alteration has been detected on Chromosome 21. Is it pathogenic, and if so, what disease is involved?
Benign
ACATCCTGAGCGCACAGCTGCCGCACATGCAGCCCTACATCCGCTTCTGCAGCCGCCAGCTCAACGGGGCTGCCCTGATCCAGCAGAAGACGGATGAGGCCCCAGACTTCAAGGAGTTCGTCAAAGTAAGGAGCCAGGCTGTGCAGAGACTGGGCCCCAGAGTGGCGATCTTTGGGCAGCTGGATGTGTGAGGGGCTAATTCAAAAGTCTGCAAGAGTGTTCCCACTAGAGGCCAACAGGGCCTAGGGTCTTGGCTAAGCCTTAGGGGACTGGCACTCACTGGCAAGTGTGGCTGTCACCAAAGGGGTGGGCTTGGAGAG...
ACATCCTGAGCGCACAGCTGCCGCACATGCAGCCCTACATCCGCTTCTGCAGCCGCCAGCTCAACGGGGCTGCCCTGATCCAGCAGAAGACGGATGAGGCCCCAGACTTCAAGGAGTTCGTCAAAGTAAGGAGCCAGGCTGTGCAGAGACTGGGCCCCAGAGTGGCGATCTTTGGGCAGCTGGATGTGTGAGGGGCTAATTCAAAAGTCTGCAAGAGTGTTCCCACTAGAGGCCAACAGGGCCTAGGGTCTTGGCTAAGCCTTAGGGGACTGGCACTCACTGGCAAGTGTGGCTGTCACCAAAGGGGTGGGCTTGGAGAG...
Task1_train_48219
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
TCTAAACCACTCTTTTCCAACACATTTTGATGTACTTTACATTTAACCCAGGCCTTATGAATAATCACTGGTTACAGAAGCACTAATAAGATACACGCTGGCTTTTCCAAAGCAAAGGGTCACAGAAGCTGATATAAAAATGAAACAAACATCCCAGGTGACAAGTTACCTTTCCCAATTTCTTGATTTTACCCTGTTTTTCCCTTTTCTTCCTGCAAAAGGTGACACATGTAATATCAAGGCAAACACAGCAGCAACAACCCGTTACTTACAGATGCAGAGGTCACTGTGCAAGGTACCTCTCCGCGATGGACACTCAT...
TCTAAACCACTCTTTTCCAACACATTTTGATGTACTTTACATTTAACCCAGGCCTTATGAATAATCACTGGTTACAGAAGCACTAATAAGATACACGCTGGCTTTTCCAAAGCAAAGGGTCACAGAAGCTGATATAAAAATGAAACAAACATCCCAGGTGACAAGTTACCTTTCCCAATTTCTTGATTTTACCCTGTTTTTCCCTTTTCTTCCTGCAAAAGGTGACACATGTAATATCAAGGCAAACACAGCAGCAACAACCCGTTACTTACAGATGCAGAGGTCACTGTGCAAGGTACCTCTCCGCGATGGACACTCAT...
Task1_train_48220
A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AAAGTAGGTATTGGGTCTGTGATCCTGGGAGAACCCTAACCCAGGGAATTCCATAGCTCCCCTCTTTCACATCTTGGATTTTCTTTTCTCCACCTCCAGATTCCCAAGCTCTTAACTTGGAGGCAGAAGCACTGGTGGTGAGTTTAGAAATCTAGGAGAATCAGCAAGATACACAGACTCTTACAGTCTTAAGAGACCCGGGAGATGAAGGTGTAACCTTTTTCCAGCGCAGGGCTCCCACGATCCTCCAGACAGGCCCGGAGAAGCGGACCCTCATGGACAACAGCGCCCATCTCTGGTCAGAGAAACTCGACTGGCTC...
AAAGTAGGTATTGGGTCTGTGATCCTGGGAGAACCCTAACCCAGGGAATTCCATAGCTCCCCTCTTTCACATCTTGGATTTTCTTTTCTCCACCTCCAGATTCCCAAGCTCTTAACTTGGAGGCAGAAGCACTGGTGGTGAGTTTAGAAATCTAGGAGAATCAGCAAGATACACAGACTCTTACAGTCTTAAGAGACCCGGGAGATGAAGGTGTAACCTTTTTCCAGCGCAGGGCTCCCACGATCCTCCAGACAGGCCCGGAGAAGCGGACCCTCATGGACAACAGCGCCCATCTCTGGTCAGAGAAACTCGACTGGCTC...
Task1_train_48221
The following genetic variant occurs on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AAGGAGTACGGGGGCCTGGACGTGCTGGTCAACAACGCGGGCATCGCCTTCAAGGGTATGGGGAGGGGACGTGGCCTCCCCGAAGAAGAACCGATGCACTGGGGCTCCTGGCGTCTGCGGGGTCCATAACGCCTCCCTAGGGAGGAGAGGGAGGAGCTAGGAGATGCAGGGAGTGCAGAAACCTTGGAGAAAGTGAGAGTTTTCCAGCCAAAGGGAACTTTGTGTTTCCCTGGCTGGGACTCTTGGGGATCTTTTTCAGGTTTTCTGCAGTTTTTCTGAATTGAGCTTTAAGGCAACTGGATGGATTTTGAACTGATTTT...
AAGGAGTACGGGGGCCTGGACGTGCTGGTCAACAACGCGGGCATCGCCTTCAAGGGTATGGGGAGGGGACGTGGCCTCCCCGAAGAAGAACCGATGCACTGGGGCTCCTGGCGTCTGCGGGGTCCATAACGCCTCCCTAGGGAGGAGAGGGAGGAGCTAGGAGATGCAGGGAGTGCAGAAACCTTGGAGAAAGTGAGAGTTTTCCAGCCAAAGGGAACTTTGTGTTTCCCTGGCTGGGACTCTTGGGGATCTTTTTCAGGTTTTCTGCAGTTTTTCTGAATTGAGCTTTAAGGCAACTGGATGGATTTTGAACTGATTTT...
Task1_train_48222
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
GAACTAGGCCAGGCACGGTGACACAAGCCTGTAATACCAGCACTTTGAGAGGCCAAGGAGGGAGAATCGATGTAGCCCAGGAGTTCAACCAGTCTGAGCAACACAGTGAGACTCCCATCTCTAAAAACAAATAAAAATAAAATAAAATAAAAAATTATCCAGGCAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCAGCGCC...
GAACTAGGCCAGGCACGGTGACACAAGCCTGTAATACCAGCACTTTGAGAGGCCAAGGAGGGAGAATCGATGTAGCCCAGGAGTTCAACCAGTCTGAGCAACACAGTGAGACTCCCATCTCTAAAAACAAATAAAAATAAAATAAAATAAAAAATTATCCAGGCAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCAGCGCC...
Task1_train_48223
A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic?
Benign
AAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTGTCTCACAAAACAAAATAAAAAATTTTTAGGCCGGGTGTAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTCTGTCTCACAAAACAAAATAAAAAAATTTTAGGCCAGGTGTAGTGGCTCACGCCTGTAAT...
AAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTGTCTCACAAAACAAAATAAAAAATTTTTAGGCCGGGTGTAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTCTGTCTCACAAAACAAAATAAAAAAATTTTAGGCCAGGTGTAGTGGCTCACGCCTGTAAT...
Task1_train_48224
Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TTTTTTTAAATAGGCAGTGGTCAGTGGCCTATTTGACTTCTCCTAAAAAAGACTTCAATATTTTAAAGTGTCATACGTTTTCTGATTATAGAAGTACTAACATGGTTAGTTTTAAAATGGAAATAATGAGGACATAAAAACCTAAGTGGAAGTCCTTTGTAATGCTAGTTGATAGAACTAGGGATTGTTAATGGCTTGCAGGTAGTCTCCCAGACTTTCCTAGTGGCTGTGTATTATACATACTCTCTCCTAACTGGGCTCATTCTACATAATACTCTTCTGCTGCTTGATTTTTTTTTTCCTTTCTTTTTAGAGACAGG...
TTTTTTTAAATAGGCAGTGGTCAGTGGCCTATTTGACTTCTCCTAAAAAAGACTTCAATATTTTAAAGTGTCATACGTTTTCTGATTATAGAAGTACTAACATGGTTAGTTTTAAAATGGAAATAATGAGGACATAAAAACCTAAGTGGAAGTCCTTTGTAATGCTAGTTGATAGAACTAGGGATTGTTAATGGCTTGCAGGTAGTCTCCCAGACTTTCCTAGTGGCTGTGTATTATACATACTCTCTCCTAACTGGGCTCATTCTACATAATACTCTTCTGCTGCTTGATTTTTTTTTTCCTTTCTTTTTAGAGACAGG...
Task1_train_48225
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
AATTTGTTACATTCCTAGGAAACCTTAAGCTATGGAAGAAAAAAAAAGTCTCATTCTACAAACAAGACATTTCAGGGGAGAAGCAGGGGAGAGTGTTAGGGGCTAGAGAGTGTTATTTGAAACACTTTTCCCTCCATAGGAATGAAAGTTTTTGTCATGGCCATCAAGTTTAAACCTTACTCAGTAAATCTGTTATATTTACTTGCTCCGCTTCCCACCCACCACCCTCAAAATATGGTGTTGTCTGCCAGCCAGTCCATATGATTGTGTAAGTCCATTCCTCACCATGGGCTGCTTGGTTTCTGCGTCTCCTCATTCAT...
AATTTGTTACATTCCTAGGAAACCTTAAGCTATGGAAGAAAAAAAAAGTCTCATTCTACAAACAAGACATTTCAGGGGAGAAGCAGGGGAGAGTGTTAGGGGCTAGAGAGTGTTATTTGAAACACTTTTCCCTCCATAGGAATGAAAGTTTTTGTCATGGCCATCAAGTTTAAACCTTACTCAGTAAATCTGTTATATTTACTTGCTCCGCTTCCCACCCACCACCCTCAAAATATGGTGTTGTCTGCCAGCCAGTCCATATGATTGTGTAAGTCCATTCCTCACCATGGGCTGCTTGGTTTCTGCGTCTCCTCATTCAT...
Task1_train_48226
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CCTCCCGGCGGCCTCAGTCCCAGCTTCCCGGGCCCAGCGCCCGGTCCCTGGGAAAGGCGGGGTTCTCCTCTCGCCCCGCCGCCCCGGTCCCCTACCCCGTTTGGCCCCCTCTTCCGGGAGGCTCCTCCCGGGGCGGGCCCCTCCCCGGGCTCTCAGGGCGCGCCCCTAGCCCCTACTAAGCGGGGACAGGCCGTGCAGACGGCCGGGGCCCCTAGGTAGCCTTTACCTGGGTGTTTCGTTTTGCTTTTCTGGATGTAGCGGCGTATCATAAACTTGTGGATGTCAGGACCCAGCGAAGCATTTTAGGTGGAGCTAGCAAG...
CCTCCCGGCGGCCTCAGTCCCAGCTTCCCGGGCCCAGCGCCCGGTCCCTGGGAAAGGCGGGGTTCTCCTCTCGCCCCGCCGCCCCGGTCCCCTACCCCGTTTGGCCCCCTCTTCCGGGAGGCTCCTCCCGGGGCGGGCCCCTCCCCGGGCTCTCAGGGCGCGCCCCTAGCCCCTACTAAGCGGGGACAGGCCGTGCAGACGGCCGGGGCCCCTAGGTAGCCTTTACCTGGGTGTTTCGTTTTGCTTTTCTGGATGTAGCGGCGTATCATAAACTTGTGGATGTCAGGACCCAGCGAAGCATTTTAGGTGGAGCTAGCAAG...
Task1_train_48227
A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless?
Benign
CCACTTCGTATCCTCCTTCCCTTTGCTTAATTTCTCCCCATAGTACGTTATCACCTGATACTATATACGTTTTTCTTATTTAACTTGCCCATTGACTATCTCCCCCCGGCATGAGAATGAAGACTCAAAGCAGGGCATTTTTGGCTGTTTTGGTCCTTCCTGGCCTGTAACAGTGCCTGGCACATGGTAAGCACCAATAAATACTTGAATTACTTTTTGGTTGTGGGTATGATGGAATTTAATTTTGTTTTGAGACAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAAAAGTGCAATCTCAGCTCACGGCAACCTCCGCCT...
CCACTTCGTATCCTCCTTCCCTTTGCTTAATTTCTCCCCATAGTACGTTATCACCTGATACTATATACGTTTTTCTTATTTAACTTGCCCATTGACTATCTCCCCCCGGCATGAGAATGAAGACTCAAAGCAGGGCATTTTTGGCTGTTTTGGTCCTTCCTGGCCTGTAACAGTGCCTGGCACATGGTAAGCACCAATAAATACTTGAATTACTTTTTGGTTGTGGGTATGATGGAATTTAATTTTGTTTTGAGACAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAAAAGTGCAATCTCAGCTCACGGCAACCTCCGCCT...
Task1_train_48228
A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GTTTTTTAAAATGATTTTTATGGAAAATTAAAACTTAAAGAGAACTAGCCTAGAATGATTAAATACTAAAAACTTGATTCAGAATTATTTATCTAGTGGTTGAATTTACAATTAAAATTATAACATTTGATGCTGTGAAATTACATGTTTGATTAATAGATTTGGCATTTATATAAAAACTATACAGTTTGCTCTCAGTTGTTGAAACTTTAATTCCAAAAGCATATTTTTCTTTTTATCTCTCTTCAGTAAACATTTTGAACCTATGACTATTTTTTACCCTGAAATACTCAATGTACTGTCTAAATTATTACTTCTCT...
GTTTTTTAAAATGATTTTTATGGAAAATTAAAACTTAAAGAGAACTAGCCTAGAATGATTAAATACTAAAAACTTGATTCAGAATTATTTATCTAGTGGTTGAATTTACAATTAAAATTATAACATTTGATGCTGTGAAATTACATGTTTGATTAATAGATTTGGCATTTATATAAAAACTATACAGTTTGCTCTCAGTTGTTGAAACTTTAATTCCAAAAGCATATTTTTCTTTTTATCTCTCTTCAGTAAACATTTTGAACCTATGACTATTTTTTACCCTGAAATACTCAATGTACTGTCTAAATTATTACTTCTCT...
Task1_train_48229
Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TGAGTAATAAGTGTGCCTAAAAATTATTTGTATCTCATTTCTCCCTCATTCATTCATTCGGTAATTAGTGGTGATAAAGACTGATGTGGGCTGTGCCCTCAAAGTGCACATGGACTTGGGGAAAGGCAGACTTTAAACCCATTGTTACCTGCAGCAGAGTGAGGTTTCTCATGGCAGAATGCTGGAGCGGCGTGGATCAGGGGCCACTAACCTAATCTAGAGGTGTGGCCTCAGCGGGAGATTCCCAGTTGGAAGTCTCCCAGAGACAGAGATCTGCAATAGGAACTTACCAGACAAAGGAGTGAGAGGGGTGTGTTTGG...
TGAGTAATAAGTGTGCCTAAAAATTATTTGTATCTCATTTCTCCCTCATTCATTCATTCGGTAATTAGTGGTGATAAAGACTGATGTGGGCTGTGCCCTCAAAGTGCACATGGACTTGGGGAAAGGCAGACTTTAAACCCATTGTTACCTGCAGCAGAGTGAGGTTTCTCATGGCAGAATGCTGGAGCGGCGTGGATCAGGGGCCACTAACCTAATCTAGAGGTGTGGCCTCAGCGGGAGATTCCCAGTTGGAAGTCTCCCAGAGACAGAGATCTGCAATAGGAACTTACCAGACAAAGGAGTGAGAGGGGTGTGTTTGG...
Task1_train_48230
A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
ATTGTGTGGTTACTTCCTGTGTCCTGACAACTTGTGCCTGGATCCCTGATGTGATCATTTAGATCTGGTAGAAATACCAGGTGGAGTCAGCCTCCTAAAGATGGAACAGTGGGTAACAGGTGTAGAAGCTGGGGCATGAGGTGGTGGCGTGCTCTCCTTGCATGAAGGCCCTCTCTCCCCTGCTGCTCCCGCTGTTGGTGCTGATGTTCAGACTCATGGACAGTGAGCCCTACAATGTGTCATACCCCTGGGGCTGAGGGCAAGAGGGAAAGGGAACAATGGCCCACACCAAAATGTAAAAGGCCCTCCGGGAGTTCTGG...
ATTGTGTGGTTACTTCCTGTGTCCTGACAACTTGTGCCTGGATCCCTGATGTGATCATTTAGATCTGGTAGAAATACCAGGTGGAGTCAGCCTCCTAAAGATGGAACAGTGGGTAACAGGTGTAGAAGCTGGGGCATGAGGTGGTGGCGTGCTCTCCTTGCATGAAGGCCCTCTCTCCCCTGCTGCTCCCGCTGTTGGTGCTGATGTTCAGACTCATGGACAGTGAGCCCTACAATGTGTCATACCCCTGGGGCTGAGGGCAAGAGGGAAAGGGAACAATGGCCCACACCAAAATGTAAAAGGCCCTCCGGGAGTTCTGG...
Task1_train_48231
Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
GTAGCTGGAAATGATGGCCACAATTCCTCAGACGCCTGCCGGCTCTTTCTTCCACGTCTTTAGTAGGGGATCAACAAGGTCACTTACTGTAGGGAGTGATTTACTCCGCCTTCCCTGGATCACATCAGATTGATTCTAATCAGATATCTATGTACTGTTACTCCCTGAACAAGCATTTGGCAGTACTGGTAGTGGGGAGCCAAGATGGATTTAATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGG...
GTAGCTGGAAATGATGGCCACAATTCCTCAGACGCCTGCCGGCTCTTTCTTCCACGTCTTTAGTAGGGGATCAACAAGGTCACTTACTGTAGGGAGTGATTTACTCCGCCTTCCCTGGATCACATCAGATTGATTCTAATCAGATATCTATGTACTGTTACTCCCTGAACAAGCATTTGGCAGTACTGGTAGTGGGGAGCCAAGATGGATTTAATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGG...
Task1_train_48232
A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
ATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGGAAGGTAAGATCTCATTCTCAGATGATTAAGACCAGCACCCTCCTGCAGTATCCACGCTCCCACCCTGGGGCTTTCCTTTGAAATCAGCAAGAGTCTGTGTAGATGAAGAGATACGAGTCAGGAGCAGGTCCACATAGAAGCGGCTTTCCCATATTAATAATAATGTTTCACAATAATATCACTTTGGGTGCTTCCTCTACTCCTTGGAGCCAT...
ATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGGAAGGTAAGATCTCATTCTCAGATGATTAAGACCAGCACCCTCCTGCAGTATCCACGCTCCCACCCTGGGGCTTTCCTTTGAAATCAGCAAGAGTCTGTGTAGATGAAGAGATACGAGTCAGGAGCAGGTCCACATAGAAGCGGCTTTCCCATATTAATAATAATGTTTCACAATAATATCACTTTGGGTGCTTCCTCTACTCCTTGGAGCCAT...
Task1_train_48233
A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
ATGCATGCAGTCACTTGCAGACAGGCTGCATTTGTCTCTGCTGGTGCTCATGTTACAAGTTTGTCTGTGCATTTGGGCATGCCAGAATGGCGTTTCATTTCCAAACCTTTATTGTGGTCACTTTCCTCTTCGTTACACTGAGAAGTGTTGCTGAGGGTATAGTAAGGCCCTAGTTCATCAATTATATCCTGTACTTTTCTTCTAACTTGATCCCAAGAACAGTGGAATTTGCTTCAAGGTAAACAAATTTTGAATAATTTATGGCCCTTCTTTTCAACAAAAATGAAAACGTGACTTTCTAAAGAAAAGTCAATTACAAG...
ATGCATGCAGTCACTTGCAGACAGGCTGCATTTGTCTCTGCTGGTGCTCATGTTACAAGTTTGTCTGTGCATTTGGGCATGCCAGAATGGCGTTTCATTTCCAAACCTTTATTGTGGTCACTTTCCTCTTCGTTACACTGAGAAGTGTTGCTGAGGGTATAGTAAGGCCCTAGTTCATCAATTATATCCTGTACTTTTCTTCTAACTTGATCCCAAGAACAGTGGAATTTGCTTCAAGGTAAACAAATTTTGAATAATTTATGGCCCTTCTTTTCAACAAAAATGAAAACGTGACTTTCTAAAGAAAAGTCAATTACAAG...
Task1_train_48234
Consider this mutation on Chromosome 21. Is this a benign change or a disease-causing variant?
Benign
CTGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAG...
CTGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAG...
Task1_train_48235
This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
TGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAGT...
TGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAGT...
Task1_train_48236
A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
CTGCACATCTTCGAGTAATCCTCAGGAGACCTGTTCTGGCTTTTGATGATTTCTTAACCACCTGTAAACTACTGTCTGAGTCACTGGAACAGACCCTTTTCCTGGAAATTTTTCTGCTTAGTCCATTGTCTTGTGATGCAGAATCTAAAAGTTAAAGAGCAGATTTCTATTAATCTTTTGTAAGTCTAAAGGAATTATATGTTCAATATTAAAAACAAGTTCAGAATTCGTATTAATTTGAAGGGGGTATTGCAGTGAATGGAATGGTACACACCTATTAGTATAGTCATATGTTGCTCAACAGCAAGGATACGTTCTGA...
CTGCACATCTTCGAGTAATCCTCAGGAGACCTGTTCTGGCTTTTGATGATTTCTTAACCACCTGTAAACTACTGTCTGAGTCACTGGAACAGACCCTTTTCCTGGAAATTTTTCTGCTTAGTCCATTGTCTTGTGATGCAGAATCTAAAAGTTAAAGAGCAGATTTCTATTAATCTTTTGTAAGTCTAAAGGAATTATATGTTCAATATTAAAAACAAGTTCAGAATTCGTATTAATTTGAAGGGGGTATTGCAGTGAATGGAATGGTACACACCTATTAGTATAGTCATATGTTGCTCAACAGCAAGGATACGTTCTGA...
Task1_train_48237
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
ACTACTGGAAGCTGACGATGACAAAGAGGTAGCTAAAGAATCTTCCACTTCACTTTCTAGGAAAAATAAAGTGTAAATAGTTACATATATTCTCCTGTCTTTACACACATAAGCAAGCAGTTCATAACATTACTCTGAACATTACATAACATTACTACAAAAGCAGATTCCTAAAATGCTTAGAATATATTTTTTAAAAACCATTCCCAAAAAAAGCTGATGAAATTTGGAGTATTAAAAGGTACATAATCAGCATTCCAAATAGTTTTTAATTATATTTCTAAAAATAACAGATTAATCCTAGTGTAGATTTACAAAAT...
ACTACTGGAAGCTGACGATGACAAAGAGGTAGCTAAAGAATCTTCCACTTCACTTTCTAGGAAAAATAAAGTGTAAATAGTTACATATATTCTCCTGTCTTTACACACATAAGCAAGCAGTTCATAACATTACTCTGAACATTACATAACATTACTACAAAAGCAGATTCCTAAAATGCTTAGAATATATTTTTTAAAAACCATTCCCAAAAAAAGCTGATGAAATTTGGAGTATTAAAAGGTACATAATCAGCATTCCAAATAGTTTTTAATTATATTTCTAAAAATAACAGATTAATCCTAGTGTAGATTTACAAAAT...
Task1_train_48238
A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TCAAAGCTTCTTTGCCGTCAGTTCATGACACATCACTATCCTCTGCATTTGCTTTTACTGTATCCTCACTATTCCCTATAAACTCTGCTCTGGCAGTCCGTGCAGAGATCTATGATCCCATAGGGCTTGTTTTTAAAGGATTCTTGCCTACTGATCAGCCCACAGGCAAAACAACACACCAAGTGTACAGAGGTTTAAATTCTGTTCCAAGGATCCCTATTTAGTGATAACCTCAACAAGGTCTGTTCTCCGGCCGTTTTCACTGTTGCCAAGTCAAGAGTTGCCCCACACCACCTCTGAAGACTATACTTAAGAGGGCA...
TCAAAGCTTCTTTGCCGTCAGTTCATGACACATCACTATCCTCTGCATTTGCTTTTACTGTATCCTCACTATTCCCTATAAACTCTGCTCTGGCAGTCCGTGCAGAGATCTATGATCCCATAGGGCTTGTTTTTAAAGGATTCTTGCCTACTGATCAGCCCACAGGCAAAACAACACACCAAGTGTACAGAGGTTTAAATTCTGTTCCAAGGATCCCTATTTAGTGATAACCTCAACAAGGTCTGTTCTCCGGCCGTTTTCACTGTTGCCAAGTCAAGAGTTGCCCCACACCACCTCTGAAGACTATACTTAAGAGGGCA...
Task1_train_48239
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
ATAATGAGGAACTAAAAGGATCAGTTTTGAATTTATCACTTTCATTTAGGTGTTTGAAGAATCTGAAAAGCACAGGTATTAATATGACCATACTAACTTGATACATTAAGTTCAAAATTTAAGCCATGTTAAAGAAACATAAAAATACTTTTAGATACCATCCATCAATACTGAGAAGAAAGCTTAACATTTATTCCTTGTTAGTAAGTATACAGCAGCAGCTAAATTAGTTTAGCCCCCAGCGGGTGGTATAAAAGACCCATACGGATACTGACCAATTACTTGAATTAAAGGGCCATAAAGACAAGCAAGTAGAGCTC...
ATAATGAGGAACTAAAAGGATCAGTTTTGAATTTATCACTTTCATTTAGGTGTTTGAAGAATCTGAAAAGCACAGGTATTAATATGACCATACTAACTTGATACATTAAGTTCAAAATTTAAGCCATGTTAAAGAAACATAAAAATACTTTTAGATACCATCCATCAATACTGAGAAGAAAGCTTAACATTTATTCCTTGTTAGTAAGTATACAGCAGCAGCTAAATTAGTTTAGCCCCCAGCGGGTGGTATAAAAGACCCATACGGATACTGACCAATTACTTGAATTAAAGGGCCATAAAGACAAGCAAGTAGAGCTC...
Task1_train_48240
This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign?
Benign
ACTTGAAATAATACCACGTGTAACCATTATCAGCTGAAAAGCTAGATTAAAAAAAAATCAATCAAGTTTCCCAAAGTATAATGTTTGGACCTTCAAAATATTTAGTTCTAGGGAAAGATACAAGTCAGAAGCACACACAGTGACAAGATATGCCTTGAAAACATGTCTACTGTGTAGTATGATAATCGATACACCAAGTGCTTACGTTCTGTTTAGACTTCAAAGTCTGATCAACCATGAAGTCAAAGGTGTATTACAGAAACGAGATGTAAAAATGAACAAATCCCTTCTGCCCTTTTTCCTTTTGGGAAAACTGACCT...
ACTTGAAATAATACCACGTGTAACCATTATCAGCTGAAAAGCTAGATTAAAAAAAAATCAATCAAGTTTCCCAAAGTATAATGTTTGGACCTTCAAAATATTTAGTTCTAGGGAAAGATACAAGTCAGAAGCACACACAGTGACAAGATATGCCTTGAAAACATGTCTACTGTGTAGTATGATAATCGATACACCAAGTGCTTACGTTCTGTTTAGACTTCAAAGTCTGATCAACCATGAAGTCAAAGGTGTATTACAGAAACGAGATGTAAAAATGAACAAATCCCTTCTGCCCTTTTTCCTTTTGGGAAAACTGACCT...
Task1_train_48241
Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TAAAATATCCTAAGTTTAGTAAATATATTAGTTAGGACTGAGCAGCTAGCTCGAATAAACACCAGCAGGGCCATGGTACTGTTTTATGGTTTTTAGAACAAGGTTAACAGAAAAATGGTCAACATACAGGTATGCAACAAATCTCAATAAATGATACTGGATCTCAGGTGTACACAAGGAAAGCATCACCCACAAAGGCAGGACATTGGATACCCAGGTTAGCTGAATAAGAGAAACTCAAAAATGATTTTCATGGCTGGGCACGGTGGCTCACGCCTGTCATTCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACC...
TAAAATATCCTAAGTTTAGTAAATATATTAGTTAGGACTGAGCAGCTAGCTCGAATAAACACCAGCAGGGCCATGGTACTGTTTTATGGTTTTTAGAACAAGGTTAACAGAAAAATGGTCAACATACAGGTATGCAACAAATCTCAATAAATGATACTGGATCTCAGGTGTACACAAGGAAAGCATCACCCACAAAGGCAGGACATTGGATACCCAGGTTAGCTGAATAAGAGAAACTCAAAAATGATTTTCATGGCTGGGCACGGTGGCTCACGCCTGTCATTCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACC...
Task1_train_48242
Consider this mutation on Chromosome 21. Is this a benign change or a disease-causing variant?
Benign
TGCATGATCCCACAAAAGCTTACCATCAATATAAAATGTAGTATATAGATTCAAGATCTCTTATTGTAAACCCTTGGAACCAGACTGTTTCAGAATTTGGGGGTGGGTTTTAAAGGTGAGTGCATATATGGTATTTTCCACAGTTCTCTCATTGGGGTCTGGAACAACACCCTTTAATGAAACTATATTTTTGCAGTGAAATTATAATCACTATTCACACTAAGTGAAATAACTAAAGATCTGCTTCATATTAGTTCAAATAAGGTTTTTGTTGCCAAATCAACTTTGATGCCAAGGATATGAAAGATGTTGGGTTTTTG...
TGCATGATCCCACAAAAGCTTACCATCAATATAAAATGTAGTATATAGATTCAAGATCTCTTATTGTAAACCCTTGGAACCAGACTGTTTCAGAATTTGGGGGTGGGTTTTAAAGGTGAGTGCATATATGGTATTTTCCACAGTTCTCTCATTGGGGTCTGGAACAACACCCTTTAATGAAACTATATTTTTGCAGTGAAATTATAATCACTATTCACACTAAGTGAAATAACTAAAGATCTGCTTCATATTAGTTCAAATAAGGTTTTTGTTGCCAAATCAACTTTGATGCCAAGGATATGAAAGATGTTGGGTTTTTG...
Task1_train_48243
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
ATTAATTTCTCCCCAGGGTTTGCAGATGGAGGAGGTGTCATTATTGAGGGCAGTTTTCACCTGATATAATCAAGAGATGCGTATTCTCTAGAGCACCTGAGAATCCAGCTATAGTTTATGCTACTAACTTACAAAGTCATTAGAAAATATGCCCCCACTTTCTTCAAGTAATATTTGGAGAAATATGGCATGCTTATGTGGCAGACTTTAAGGTGTGAAAATATATAATTGTATGAAAAAATAATACGTACTGTAGAAATTTTGAAAATGCAGAAAAGAAAAACTGATCTGTAATCCTTGGTGTGCTTTAAAATAAAATT...
ATTAATTTCTCCCCAGGGTTTGCAGATGGAGGAGGTGTCATTATTGAGGGCAGTTTTCACCTGATATAATCAAGAGATGCGTATTCTCTAGAGCACCTGAGAATCCAGCTATAGTTTATGCTACTAACTTACAAAGTCATTAGAAAATATGCCCCCACTTTCTTCAAGTAATATTTGGAGAAATATGGCATGCTTATGTGGCAGACTTTAAGGTGTGAAAATATATAATTGTATGAAAAAATAATACGTACTGTAGAAATTTTGAAAATGCAGAAAAGAAAAACTGATCTGTAATCCTTGGTGTGCTTTAAAATAAAATT...
Task1_train_48244
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
AGGAACTCCCCAGGGGTGCCAAGCAGAGCAGGTAGTTGGCTAAGTTTGCCTCCAGGAAAGAAGTCCCTGGAGAGCGAGCTGGTTCTAGAAAGCTCCATTATTATATTCCTATTGCTTTTGGCGAATATATGTAGAACAGAATTTTGACAATGAAATTTTCAGGTGCTCTTTTGGCCATCAAAATAACCAGCTCTTGGCTGGGCACAGTGGCTTGCCCTTGTAATTCCAGTGTTTTGGGAGGCCAAGGCAGGGGACTGCGTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAAT...
AGGAACTCCCCAGGGGTGCCAAGCAGAGCAGGTAGTTGGCTAAGTTTGCCTCCAGGAAAGAAGTCCCTGGAGAGCGAGCTGGTTCTAGAAAGCTCCATTATTATATTCCTATTGCTTTTGGCGAATATATGTAGAACAGAATTTTGACAATGAAATTTTCAGGTGCTCTTTTGGCCATCAAAATAACCAGCTCTTGGCTGGGCACAGTGGCTTGCCCTTGTAATTCCAGTGTTTTGGGAGGCCAAGGCAGGGGACTGCGTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAAT...
Task1_train_48245
Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CACATCATGCTCATAATTATACGGATCTTACTGCTTAGGAGGAGGCCTAATTAATTGTGTGCAATTAACAGCCGTTAATTGTGTTTTAGAGATCAAGTTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCT...
CACATCATGCTCATAATTATACGGATCTTACTGCTTAGGAGGAGGCCTAATTAATTGTGTGCAATTAACAGCCGTTAATTGTGTTTTAGAGATCAAGTTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCT...
Task1_train_48246
A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
TTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCTTGTGATTTTCCTCCACGGTATGTTGTCTGGTTCCTAATCCCCTCTCATTACTGTCAGTTTTAACTGTGTGTGGGTCTATGTGTGTTCACCTCTCATG...
TTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCTTGTGATTTTCCTCCACGGTATGTTGTCTGGTTCCTAATCCCCTCTCATTACTGTCAGTTTTAACTGTGTGTGGGTCTATGTGTGTTCACCTCTCATG...
Task1_train_48247
A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
TACATAAAGACTGGCCTTGGAGTGAAATAATCTCAGCACTTCGCACAAGGCACTGGAAGGAACTGGGGTTTCAGAGGGATGCTTGTTCTGTTGGCATTGTGTGGCCCGGACTTCTCACAGGGTGAGGCTGGGGCTCACCCACCCCATCATCCCCACACTCACCCTGCTGGGCTCTGTCCACTTGACTGCCATTGACCCGAGGTGGGAGTGCAGGAGGAGTGTGGTTATTACATCACGGACCCTCGGGGCGCAGACTCGGCTGTTTTCTCTTCTTCTTAACAAGCAATTCAGAGTTCATGGAAAGGGCATTGCGGCTTCCC...
TACATAAAGACTGGCCTTGGAGTGAAATAATCTCAGCACTTCGCACAAGGCACTGGAAGGAACTGGGGTTTCAGAGGGATGCTTGTTCTGTTGGCATTGTGTGGCCCGGACTTCTCACAGGGTGAGGCTGGGGCTCACCCACCCCATCATCCCCACACTCACCCTGCTGGGCTCTGTCCACTTGACTGCCATTGACCCGAGGTGGGAGTGCAGGAGGAGTGTGGTTATTACATCACGGACCCTCGGGGCGCAGACTCGGCTGTTTTCTCTTCTTCTTAACAAGCAATTCAGAGTTCATGGAAAGGGCATTGCGGCTTCCC...
Task1_train_48248
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
TTATTGTTGCCTTTTTCACCCTTCTTCTCACAAGTGCACAGGAGAGCTTTCCACTATACATTGGGAAGGTCTGCATGCCTCAGAATTTTCCAGATGACTGAAGTGTAACAAAATCATGCAAGGATAAAAGGTCCATTCAAAGTGCCAGATAGTGCAATGGGTTTCAACATAACAGAAAATGAAAGTTCCTTGATAGAGTTTCAGATTCCACTGTGTAACAAACATTTAAGAAACCTCAGCCGGGAATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCCAGGCGGGCAGCTCACTTGAGCCCAGGAGTTTGAG...
TTATTGTTGCCTTTTTCACCCTTCTTCTCACAAGTGCACAGGAGAGCTTTCCACTATACATTGGGAAGGTCTGCATGCCTCAGAATTTTCCAGATGACTGAAGTGTAACAAAATCATGCAAGGATAAAAGGTCCATTCAAAGTGCCAGATAGTGCAATGGGTTTCAACATAACAGAAAATGAAAGTTCCTTGATAGAGTTTCAGATTCCACTGTGTAACAAACATTTAAGAAACCTCAGCCGGGAATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCCAGGCGGGCAGCTCACTTGAGCCCAGGAGTTTGAG...
Task1_train_48249
This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign?
Benign
TCAGGAGTTGGCACATTTTTTCCATAAAAGGCCCTGTAGTAAATAGTTTTAGTTTTGCCAGCCATATGGTCTCTGTCATGAGGACTCAACTCTGCTGTTATAACATGAGTATGGCTACATGTTTAGGTAGCCATAGACAATATGTGAGCTGATAGATGTAACCGTGTTCCAATGAAACTTTATTTACAAAAACAAGGAGTGGGTCAGATTTGGCCTGTGGGTCATAGCTTGCTGACTCTTGTTTTATTTGGTGAATGGTTTCTGAGAGTTGAGTAACAACTGGGGAGTAGAGTCCATGGACCAGGATAAACTTTCATCTC...
TCAGGAGTTGGCACATTTTTTCCATAAAAGGCCCTGTAGTAAATAGTTTTAGTTTTGCCAGCCATATGGTCTCTGTCATGAGGACTCAACTCTGCTGTTATAACATGAGTATGGCTACATGTTTAGGTAGCCATAGACAATATGTGAGCTGATAGATGTAACCGTGTTCCAATGAAACTTTATTTACAAAAACAAGGAGTGGGTCAGATTTGGCCTGTGGGTCATAGCTTGCTGACTCTTGTTTTATTTGGTGAATGGTTTCTGAGAGTTGAGTAACAACTGGGGAGTAGAGTCCATGGACCAGGATAAACTTTCATCTC...
Task1_train_48250
This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign?
Benign
ATCTTGCAACAAGCCCAGCAAACACAGCTGACCATGATGGCCATGCGGGCGGCCATGATGGAAAGTGCCCCCTTCCTCCCTGGATGAGGGCCCGAGTGATCCATGAATCTCACCACTGAGCAGACACAGACACCCTGAGGCTGGAGAGCCACCTTACTGCCCACGTCCCCTTCACTGGCCTTTGCAGCTCTGGCCACGCCATGCCCAGTACAGTGTGGCCTGTGCTTTAAGGTACAACCGAGTGTTGATCTGAACATAAACCTAACACTGGGAGCCAGGTAGCACAGGCTTTTGTTTTCCAGATGAGAAAACTGAGCACC...
ATCTTGCAACAAGCCCAGCAAACACAGCTGACCATGATGGCCATGCGGGCGGCCATGATGGAAAGTGCCCCCTTCCTCCCTGGATGAGGGCCCGAGTGATCCATGAATCTCACCACTGAGCAGACACAGACACCCTGAGGCTGGAGAGCCACCTTACTGCCCACGTCCCCTTCACTGGCCTTTGCAGCTCTGGCCACGCCATGCCCAGTACAGTGTGGCCTGTGCTTTAAGGTACAACCGAGTGTTGATCTGAACATAAACCTAACACTGGGAGCCAGGTAGCACAGGCTTTTGTTTTCCAGATGAGAAAACTGAGCACC...
Task1_train_48251
A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
AGAAGAAGCAGTCAGAAGGGAGGCAGAGAATATTCCAGAAGCATTGGAGAATCACCTAGATGTGGAAGAAGGGAACAATGATAAAAATAAGCACATTAAGAATAAAGGCTTTTAAAATATAGGTAGTGATAAACGCCTTTAGAGAGAAAGCAGTAACATACTCTGAGTTGAGAAGGAGACAGGAGAATGGGGAACAACACATCTTTGTGGATGGAGGCTAAGAGAGTTGGGAAGTGTTAGATAACCAAGTATTGGGAAATAATCTTCCATGTGGAGGAAGCAACATAAGTAATGTGACTTGCAATCAGGAAAGGAATAGG...
AGAAGAAGCAGTCAGAAGGGAGGCAGAGAATATTCCAGAAGCATTGGAGAATCACCTAGATGTGGAAGAAGGGAACAATGATAAAAATAAGCACATTAAGAATAAAGGCTTTTAAAATATAGGTAGTGATAAACGCCTTTAGAGAGAAAGCAGTAACATACTCTGAGTTGAGAAGGAGACAGGAGAATGGGGAACAACACATCTTTGTGGATGGAGGCTAAGAGAGTTGGGAAGTGTTAGATAACCAAGTATTGGGAAATAATCTTCCATGTGGAGGAAGCAACATAAGTAATGTGACTTGCAATCAGGAAAGGAATAGG...
Task1_train_48252
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
TGTCGTGTCCACATGTTTGTTTTTGTTCAGCTGGGGCCACCGTTACCTATTCCTTCATGTAGCTGCTTGTTACACATTCAAAAGGTAAATAATGTTCCTTTTCAGCCTTCTCCAAGCTAAACAGCAGCTTGTTGCTCAGGATCTCAGGTGTGGCGTGTTGTCTAGAAGAGCCCCTGAACATTGTCTGGTTAGCCAGTTTCCTTCTCCAAATACAACACTTGGATGAAACAGTCCAGCTACGACCCACATGCACAGAATACAGGGCACGGCCTTTTCCTTTGAACGTGTTCTGCTGCTGTCTTAGCCCACTCTGCACTCTG...
TGTCGTGTCCACATGTTTGTTTTTGTTCAGCTGGGGCCACCGTTACCTATTCCTTCATGTAGCTGCTTGTTACACATTCAAAAGGTAAATAATGTTCCTTTTCAGCCTTCTCCAAGCTAAACAGCAGCTTGTTGCTCAGGATCTCAGGTGTGGCGTGTTGTCTAGAAGAGCCCCTGAACATTGTCTGGTTAGCCAGTTTCCTTCTCCAAATACAACACTTGGATGAAACAGTCCAGCTACGACCCACATGCACAGAATACAGGGCACGGCCTTTTCCTTTGAACGTGTTCTGCTGCTGTCTTAGCCCACTCTGCACTCTG...
Task1_train_48253
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CCTCTGCCCATTCCCAGGCACACCCTCCAGTGGGCACCCAAGTTACCCTCACCCCAGAATCTCAAGCCCACCACCTGTCTTTCTCCAGACACTCCCTTGTCACCTGGAGCCTGGTTGGTTGGTATATTTGTTTTGGCATTTCCCTGCTAGGATGGTGTGCCAGGAGTGAGGGCTTGGTCTGACTTGATCACCACAATAACCACGTGGTGGAAAGTGCCTGGCACATTCAGAGTCGTACCCTTGTATGAGTCTGCTCAGGCTGCCATGGCAAAAGACCACAGACTGGGTGGCTTAGACAACACACATTGGTTCTCTCACAG...
CCTCTGCCCATTCCCAGGCACACCCTCCAGTGGGCACCCAAGTTACCCTCACCCCAGAATCTCAAGCCCACCACCTGTCTTTCTCCAGACACTCCCTTGTCACCTGGAGCCTGGTTGGTTGGTATATTTGTTTTGGCATTTCCCTGCTAGGATGGTGTGCCAGGAGTGAGGGCTTGGTCTGACTTGATCACCACAATAACCACGTGGTGGAAAGTGCCTGGCACATTCAGAGTCGTACCCTTGTATGAGTCTGCTCAGGCTGCCATGGCAAAAGACCACAGACTGGGTGGCTTAGACAACACACATTGGTTCTCTCACAG...
Task1_train_48254
A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation?
Benign
CACAGATCTTCTGAGGATCTTGTTAAGATGCAGTTTCAGATTCTGTGGGTCTGGAGTGGGGCCTAGAATTCTGCATTTCCAGCAAGCCCCCAGACAATGTGGATATTCCTTTTCAGGGGACCACAGTCAGGGGGAATGCTGATAGACTATATCTACTGGGCCAAAATAAAAATTAAAATCTTATGCACAAGCTACTAACTCTTCCTTTCTCATTGACAACCACTATTATAATGTCTTAGTCATTCTAATGAACATATTTTTTAACTTCTAAAAGCTTTGTAAAAGCTCTCTGTGGTTCTTTTTAAAAGTCTGCCTGAATA...
CACAGATCTTCTGAGGATCTTGTTAAGATGCAGTTTCAGATTCTGTGGGTCTGGAGTGGGGCCTAGAATTCTGCATTTCCAGCAAGCCCCCAGACAATGTGGATATTCCTTTTCAGGGGACCACAGTCAGGGGGAATGCTGATAGACTATATCTACTGGGCCAAAATAAAAATTAAAATCTTATGCACAAGCTACTAACTCTTCCTTTCTCATTGACAACCACTATTATAATGTCTTAGTCATTCTAATGAACATATTTTTTAACTTCTAAAAGCTTTGTAAAAGCTCTCTGTGGTTCTTTTTAAAAGTCTGCCTGAATA...
Task1_train_48255
Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GGAAGAGCCTAAGTCCATCCCCTCTTCTGCCCTCCCAGCCAGGTCAGCCACTCATCATGTGACCTGTGGCTTGTACCCACTTCTACCCCCTGGAAACACCACAACTCATTCCCAGGCCGCCAGAATGCTGCCCATCCCTCACAGAGCACCCTCTGGCACTGCTGTCCCGGGGTTGGGGCTAACGGGACCAGCCAGCCCAGCTGCCTGGAATGGAGCAGGACTTCCCTTGCTCAAGCCAGTGAAGTCCCTGGCAAACTGGAATGAGCCGGTCACCCTGGCTGGGACACTGAGACATTATCTTGGATTCCTAGAACCACGCC...
GGAAGAGCCTAAGTCCATCCCCTCTTCTGCCCTCCCAGCCAGGTCAGCCACTCATCATGTGACCTGTGGCTTGTACCCACTTCTACCCCCTGGAAACACCACAACTCATTCCCAGGCCGCCAGAATGCTGCCCATCCCTCACAGAGCACCCTCTGGCACTGCTGTCCCGGGGTTGGGGCTAACGGGACCAGCCAGCCCAGCTGCCTGGAATGGAGCAGGACTTCCCTTGCTCAAGCCAGTGAAGTCCCTGGCAAACTGGAATGAGCCGGTCACCCTGGCTGGGACACTGAGACATTATCTTGGATTCCTAGAACCACGCC...
Task1_train_48256
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
ACAGGTTACAAGATCTTGGACAAGCTTCCCAACCTCTCTTCCCCAGTTTCCTTACAATTGAGTTAAGTACATTATAAAGGGTTTGCAATGATGCCTGGCTGAAAAAAGTGCCACATCAATGTCTGTGGTTATTATTATAATGCCAGTGCAGCCAAATATACTCCTACAATTAAGGTGACTTGAGTTCAAGATAGAGTGGCCAACGGTGCCAGGCAGGCCAGCACCTAGCAACCTGGGAGGCCCTGCCTGAGGCTCCAGCAACAGCACAAGCTTGTTGTTAGAAGGTTGTCCTTGGCTGGTGGGAATAAGGGAAGCTGCTG...
ACAGGTTACAAGATCTTGGACAAGCTTCCCAACCTCTCTTCCCCAGTTTCCTTACAATTGAGTTAAGTACATTATAAAGGGTTTGCAATGATGCCTGGCTGAAAAAAGTGCCACATCAATGTCTGTGGTTATTATTATAATGCCAGTGCAGCCAAATATACTCCTACAATTAAGGTGACTTGAGTTCAAGATAGAGTGGCCAACGGTGCCAGGCAGGCCAGCACCTAGCAACCTGGGAGGCCCTGCCTGAGGCTCCAGCAACAGCACAAGCTTGTTGTTAGAAGGTTGTCCTTGGCTGGTGGGAATAAGGGAAGCTGCTG...
Task1_train_48257
Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Benign
AAAGGCTTCCAGTTAAAGTACAAAACACTTTTCAACCAAGCTATGCAATATCCTAAGTGATCCACCTTAAGTGGAGAAAGCCTCCCTCCAACCAGGCCACCCAAGAAATAAGGGACTGGTCGCTAGAAATAACAGAAGATCCTAAGGATGTGAGCTGGTGAGTCAGTCCAGGTAGGTGCTTGTTTACTTTGCTCTTCCAATATAAGAAAGTGGTGTGAAAATTTTCACTGATGATTAAAGCTCACACACATCCCCAAGAGATAAAACGAATGCCCCTATGGAGAGGGTTCCCTTTCAGAACCTAACCACTGGCTGGTATT...
AAAGGCTTCCAGTTAAAGTACAAAACACTTTTCAACCAAGCTATGCAATATCCTAAGTGATCCACCTTAAGTGGAGAAAGCCTCCCTCCAACCAGGCCACCCAAGAAATAAGGGACTGGTCGCTAGAAATAACAGAAGATCCTAAGGATGTGAGCTGGTGAGTCAGTCCAGGTAGGTGCTTGTTTACTTTGCTCTTCCAATATAAGAAAGTGGTGTGAAAATTTTCACTGATGATTAAAGCTCACACACATCCCCAAGAGATAAAACGAATGCCCCTATGGAGAGGGTTCCCTTTCAGAACCTAACCACTGGCTGGTATT...
Task1_train_48258
A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless?
Benign
AGATCACCACAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCATAGGCCACACCTTTACAGTGCTGTGGCATTGGATTGCCACACTCCCCTCAACCTGGGCCTCCTGAACAGCATAGGTGAGCCTCCCTCCCAGCCAGGCACTAAAGAGCACAGGTGAGCCTCCCTCCCGGGCAGGTGCTAAAGAGCACAGGTGAGCCTCCTTCCCAGGCAGGTACCAACCAATACAAGTGAGCCCCCCTCCCAGGCAGGTGCAAATCAGCACCCATGAGCACCCCCTCCTGGGCAGGTGGCTCCACTAGTCCTGCCGCCCCGTG...
AGATCACCACAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCATAGGCCACACCTTTACAGTGCTGTGGCATTGGATTGCCACACTCCCCTCAACCTGGGCCTCCTGAACAGCATAGGTGAGCCTCCCTCCCAGCCAGGCACTAAAGAGCACAGGTGAGCCTCCCTCCCGGGCAGGTGCTAAAGAGCACAGGTGAGCCTCCTTCCCAGGCAGGTACCAACCAATACAAGTGAGCCCCCCTCCCAGGCAGGTGCAAATCAGCACCCATGAGCACCCCCTCCTGGGCAGGTGGCTCCACTAGTCCTGCCGCCCCGTG...
Task1_train_48259
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
TTCTGAGCCTGCGTTGCAGGTGGCCAGCCCCAGCCCCCAACACACCTGCCCGACACCCAGTCCCCAAAGGGTGGACCCCTCATCCACCTGGCCCGTGAAGGGAGAGGAGCAGGGTGGGTGACACAGCAAGGATGGAAACCCAGGGAAAGACCTCCCGGAAGGGAAACCAGACAGGGGGAAGGAGGAGGGGCTGTGTGAAGGAACACAGATCTTTACATGAACAGAGTGAGCGAGGCTTGGCATTTCAGAAGGAATGAGGAGGGCGGACGGGGGGTTGGGTTCTGCCAGGACAAGAGGAAACGGGCCATCCAGTCAGGTAA...
TTCTGAGCCTGCGTTGCAGGTGGCCAGCCCCAGCCCCCAACACACCTGCCCGACACCCAGTCCCCAAAGGGTGGACCCCTCATCCACCTGGCCCGTGAAGGGAGAGGAGCAGGGTGGGTGACACAGCAAGGATGGAAACCCAGGGAAAGACCTCCCGGAAGGGAAACCAGACAGGGGGAAGGAGGAGGGGCTGTGTGAAGGAACACAGATCTTTACATGAACAGAGTGAGCGAGGCTTGGCATTTCAGAAGGAATGAGGAGGGCGGACGGGGGGTTGGGTTCTGCCAGGACAAGAGGAAACGGGCCATCCAGTCAGGTAA...
Task1_train_48260
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
TGAGCACTGGGGACAGAGCAATCTACTTGTCTGGGACAGAGATGAAATCTTTTTTTTCAATTGCTGAGGGTGATGGTTAACTGTATGTGTCGACTTGACTGGGCCATGGGGTGCCCAGATATCTGGTCCAACATGATTCTGGGTGTGACTGACTGTGTTTCTGGATGAGATTAACATTGAACTTGGCACACCCAATGATGCAGATTTTCCTCCCTCTCGTGGGTGGGCCTCATCCAGTCCGTTGGAGGCGCAATGGAACAGAAAGGCTGAGTAAAAGGAAACTCCTTCACTGCTTGAGCCGGGAAAGGGGCCTTTTCCTG...
TGAGCACTGGGGACAGAGCAATCTACTTGTCTGGGACAGAGATGAAATCTTTTTTTTCAATTGCTGAGGGTGATGGTTAACTGTATGTGTCGACTTGACTGGGCCATGGGGTGCCCAGATATCTGGTCCAACATGATTCTGGGTGTGACTGACTGTGTTTCTGGATGAGATTAACATTGAACTTGGCACACCCAATGATGCAGATTTTCCTCCCTCTCGTGGGTGGGCCTCATCCAGTCCGTTGGAGGCGCAATGGAACAGAAAGGCTGAGTAAAAGGAAACTCCTTCACTGCTTGAGCCGGGAAAGGGGCCTTTTCCTG...
Task1_train_48261
This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not?
Benign
CGCTTCTTTGGGGGCTGTGCTGGCCTCGGGTGCCTCTTCTTCAGCCTCCTCCACAGGCTCCTCTTTGACTTGGATTTTCAGTTGCTTGGAAAGACTAAGGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCT...
CGCTTCTTTGGGGGCTGTGCTGGCCTCGGGTGCCTCTTCTTCAGCCTCCTCCACAGGCTCCTCTTTGACTTGGATTTTCAGTTGCTTGGAAAGACTAAGGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCT...
Task1_train_48262
A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCTGGTGCCGCCAGATGCTGAAAGAGGACTTGAAGGTGCGCATGCACTCGAGGCAGGTCAGCTTCTTATACTCACACTTGCTCTCGTGTTCTTGCTTCAGC...
GGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCTGGTGCCGCCAGATGCTGAAAGAGGACTTGAAGGTGCGCATGCACTCGAGGCAGGTCAGCTTCTTATACTCACACTTGCTCTCGTGTTCTTGCTTCAGC...
Task1_train_48263
A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TGACACTCTGATTCTGCCTTCACAGGTCACCAGCGCCCTGCAACCAATGGCCTCCACCGTCCACCACCTGCACTCAGCCCCTGGGAACGCCTCCACCACAGTGTCGCGGCTGCTACTGGGCCTGCCACGGCCACTGCCTGTGGCTGACGTCTCCACCCTGCTGGGTGACATTGCGAAGCGTGTCTATGAAGTGATCAGCGTCCAGGTGCAAGGTTGGGCTTCCCTCAATCCTCCCTCTGGGGAGGCTGCAGGGTGGTGCCTGAACAGCCAAAATGCAAGGTGGACGCTAAAGCCAGACCAGTCCTTTGTCTTTTAAAGGA...
TGACACTCTGATTCTGCCTTCACAGGTCACCAGCGCCCTGCAACCAATGGCCTCCACCGTCCACCACCTGCACTCAGCCCCTGGGAACGCCTCCACCACAGTGTCGCGGCTGCTACTGGGCCTGCCACGGCCACTGCCTGTGGCTGACGTCTCCACCCTGCTGGGTGACATTGCGAAGCGTGTCTATGAAGTGATCAGCGTCCAGGTGCAAGGTTGGGCTTCCCTCAATCCTCCCTCTGGGGAGGCTGCAGGGTGGTGCCTGAACAGCCAAAATGCAAGGTGGACGCTAAAGCCAGACCAGTCCTTTGTCTTTTAAAGGA...
Task1_train_48264
A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TGTTGTACTCCGCTGGACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTCAGGCTGACCCCCACTCCTGGCATGTAAAGCTGGTGTTATGCTCAGCTGGACCCCCACCCCCGGTGTGGAAAGCTCATGTTATACTCCACTGGCCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCCATGCGGAAAGTTCACGTTATACTCAGCTGTGTC...
TGTTGTACTCCGCTGGACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTCAGGCTGACCCCCACTCCTGGCATGTAAAGCTGGTGTTATGCTCAGCTGGACCCCCACCCCCGGTGTGGAAAGCTCATGTTATACTCCACTGGCCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCCATGCGGAAAGTTCACGTTATACTCAGCTGTGTC...
Task1_train_48265
This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Benign
AGGCCGTAAGGTTGTCATGAGAGTGTTGGACGGATGCCCCAAAATGCCCCTGCTCCCGGCCGTTCACTGCAAAGACGGCTAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCC...
AGGCCGTAAGGTTGTCATGAGAGTGTTGGACGGATGCCCCAAAATGCCCCTGCTCCCGGCCGTTCACTGCAAAGACGGCTAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCC...
Task1_train_48266
A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic?
Benign
TAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCCCCTGCCGACTCTGGGAAGACCCCCTGCCCGAGAATCTGGGGGTGGGGCAAAGCCCAATTCTCCATAGGCACAGGGCTGA...
TAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCCCCTGCCGACTCTGGGAAGACCCCCTGCCCGAGAATCTGGGGGTGGGGCAAAGCCCAATTCTCCATAGGCACAGGGCTGA...
Task1_train_48267
This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
ACCAGCCAGGCGAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAACTCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCCCAGCCAGGAGAGCCCCAGCCAGGGGAGCACCAGCCAGGCGAGCCCCAGCCATAGGAACACTATCGGGGTGATAGGCACCACCTCCTCCCCGAAGGCTACTGGGTCAACCCACAGCTTCCCTCCTGGGGCCACAGATGGCCCACTGGCCCTCCCTGGACAGCTACAGGGAAACTCCATCATGGAGCCACCCTCCTGGCC...
ACCAGCCAGGCGAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAACTCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCCCAGCCAGGAGAGCCCCAGCCAGGGGAGCACCAGCCAGGCGAGCCCCAGCCATAGGAACACTATCGGGGTGATAGGCACCACCTCCTCCCCGAAGGCTACTGGGTCAACCCACAGCTTCCCTCCTGGGGCCACAGATGGCCCACTGGCCCTCCCTGGACAGCTACAGGGAAACTCCATCATGGAGCCACCCTCCTGGCC...
Task1_train_48268
This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
TTATCTGCTTTTTGTCTCTATAGATTTGCCCATTGTGGACATTTCACAGAAACAGAATCATACAATATGTGACTTTTTGTGTCTGGCTTCTTTCAGTTAAAATGAGGTTTTCTGGTTTCATCCACGTGGCAGCATGTGTCAGCACTGGATTCCTTGTTATGGCTGGGGCATAACCCATGCAGTCTCATCCATTCATTCACCGAGCGCACTGGGCGGCTCCCGCCTTCTGTCTGTTATAAATAGTGCTGCAATGCCCCTGCCTCAGAGAAAGTTCTTTTCCTGCTCTTTCCTGCATTCCTCCCTGCCATCCCCTCAGCATT...
TTATCTGCTTTTTGTCTCTATAGATTTGCCCATTGTGGACATTTCACAGAAACAGAATCATACAATATGTGACTTTTTGTGTCTGGCTTCTTTCAGTTAAAATGAGGTTTTCTGGTTTCATCCACGTGGCAGCATGTGTCAGCACTGGATTCCTTGTTATGGCTGGGGCATAACCCATGCAGTCTCATCCATTCATTCACCGAGCGCACTGGGCGGCTCCCGCCTTCTGTCTGTTATAAATAGTGCTGCAATGCCCCTGCCTCAGAGAAAGTTCTTTTCCTGCTCTTTCCTGCATTCCTCCCTGCCATCCCCTCAGCATT...
Task1_train_48269
A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless?
Benign
CCCGTGCCGGCTCTGGGTTGGGGAAGTGGCCTTCTGGGAAGGGGCTCGACCTAGAAAGGAGGCCAGCGTCGTTCCAAGGGTGAGTGAGAGAGCTGTGAATGTATCCAAGGGCCATGCCGGGGGTGGCTAGATGAGGGAGGCTGGAAACCATGGCGGAGTTAAGAGTCTGTCCGAGTGGTTCTGGTCAGGTGGGCAGGGATGGAAGGGTGGACACTCATGGGCAGGGTGGGGTATGAGGCCTGGTGGGAAAGTGGGGCTGTGGATGGGGCTGAGCAGGGAGCAGTGCCTGGCCTAGGAGCCAGGGCCAGAAGGCTCTCCTA...
CCCGTGCCGGCTCTGGGTTGGGGAAGTGGCCTTCTGGGAAGGGGCTCGACCTAGAAAGGAGGCCAGCGTCGTTCCAAGGGTGAGTGAGAGAGCTGTGAATGTATCCAAGGGCCATGCCGGGGGTGGCTAGATGAGGGAGGCTGGAAACCATGGCGGAGTTAAGAGTCTGTCCGAGTGGTTCTGGTCAGGTGGGCAGGGATGGAAGGGTGGACACTCATGGGCAGGGTGGGGTATGAGGCCTGGTGGGAAAGTGGGGCTGTGGATGGGGCTGAGCAGGGAGCAGTGCCTGGCCTAGGAGCCAGGGCCAGAAGGCTCTCCTA...
Task1_train_48270
A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
AGAGGTGCATGTGGGCCGGGCCACAGCGGCATCCTCAAGCCTATGCAGGGCTCTTGCAGGGCTGCGGGGCCAAGTGGAGGGGCTGAGGGTGCAGGACAGCCTGCCTGGTGCTCAGATCGCCACCCACACAGCGGCAGCTCCAGTGGAGAGACAGCGCCTCCCAGGACTGGGGCCCTGGGCAGAGCCTGCAGCCGGCAGCTCCCTCTGTGTTTTTCTGAACCAGACCAATGCTTGGCTTGATTATTAAATGCAGCAGGGTTTGGGGCATGTTGAAAGAAAAGGGAATTTGTCTCTGATGACTCACCCAGTCCCTGAAATCC...
AGAGGTGCATGTGGGCCGGGCCACAGCGGCATCCTCAAGCCTATGCAGGGCTCTTGCAGGGCTGCGGGGCCAAGTGGAGGGGCTGAGGGTGCAGGACAGCCTGCCTGGTGCTCAGATCGCCACCCACACAGCGGCAGCTCCAGTGGAGAGACAGCGCCTCCCAGGACTGGGGCCCTGGGCAGAGCCTGCAGCCGGCAGCTCCCTCTGTGTTTTTCTGAACCAGACCAATGCTTGGCTTGATTATTAAATGCAGCAGGGTTTGGGGCATGTTGAAAGAAAAGGGAATTTGTCTCTGATGACTCACCCAGTCCCTGAAATCC...
Task1_train_48271
A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
GTCTTTCTACTCTGCATCCTCAGGGCGGCACCCCCCCTTGTGCTGGCAAGGTGGCCCGTCACTCGAGGCCCAGGAGGAAGGTCCACTACAGAGCCCCTGGGGGCTGGATTTAGTGTCCATCGTGATTTAGGAGTTGTCTGGGGAAGTGGCCGGCCGGGATCTGGGGGCCTCGGTTTCTTGGGGAGGGTGGAGTCACTTTGGCTGGAGGGTGGGAGGTGTTCCCTGTCCCTCTCTCTGGAGGAGGGATGGTGTGGTTCTAGCTGGCTTATGTTCAGCACCCCAGGGATCCGACAGTGCCATTGTTGGATGGCTTTGCTGAT...
GTCTTTCTACTCTGCATCCTCAGGGCGGCACCCCCCCTTGTGCTGGCAAGGTGGCCCGTCACTCGAGGCCCAGGAGGAAGGTCCACTACAGAGCCCCTGGGGGCTGGATTTAGTGTCCATCGTGATTTAGGAGTTGTCTGGGGAAGTGGCCGGCCGGGATCTGGGGGCCTCGGTTTCTTGGGGAGGGTGGAGTCACTTTGGCTGGAGGGTGGGAGGTGTTCCCTGTCCCTCTCTCTGGAGGAGGGATGGTGTGGTTCTAGCTGGCTTATGTTCAGCACCCCAGGGATCCGACAGTGCCATTGTTGGATGGCTTTGCTGAT...
Task1_train_48272
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
ATACTGTCTTCATTTTATGAGCAGTTCTTGCCCCCTGTGACTTAGAATCCCTCACGTGTGTTTTGAGATCCATTTTGATGTTATTAAGCCCAACTTCCCAGACCTTCTTCCTGTTCTTCTTGTTGGCACAAAAGCCCCCTTCCTGTTTCAGAAGGTGCAAAAAGCAAGAGGATTGATCAGCGCGTGGCTTTGCCACATGATCACGAAAATGGAGGCGGTCGATGAGAAGGCCCTTAGGCATTAGGGGGAAGAAACAAGTAGAGTAAAAAGGAAATGTCACTGGATGTCATAGAATATGGATTTCTGTCCTTTCTGCCTTG...
ATACTGTCTTCATTTTATGAGCAGTTCTTGCCCCCTGTGACTTAGAATCCCTCACGTGTGTTTTGAGATCCATTTTGATGTTATTAAGCCCAACTTCCCAGACCTTCTTCCTGTTCTTCTTGTTGGCACAAAAGCCCCCTTCCTGTTTCAGAAGGTGCAAAAAGCAAGAGGATTGATCAGCGCGTGGCTTTGCCACATGATCACGAAAATGGAGGCGGTCGATGAGAAGGCCCTTAGGCATTAGGGGGAAGAAACAAGTAGAGTAAAAAGGAAATGTCACTGGATGTCATAGAATATGGATTTCTGTCCTTTCTGCCTTG...
Task1_train_48273
Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance.
Benign
TGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTC...
TGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTC...
Task1_train_48274
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
GCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTAT...
GCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTAT...
Task1_train_48275
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
AACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGT...
AACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGT...
Task1_train_48276
A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CTAAATATGAAGAGCAAAAGTAGCAAAACTTCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAAT...
CTAAATATGAAGAGCAAAAGTAGCAAAACTTCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAAT...
Task1_train_48277
Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
TCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAATTAGGGACTGATAATATTAAGTGTGCATGAG...
TCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAATTAGGGACTGATAATATTAAGTGTGCATGAG...
Task1_train_48278
Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing?
Benign
CTTAAAGCAACAATAAGACAATAGGTGGCTATCAGGATGCATTAACAAACATATAAGAAACTTTTTTTCAATAAAACAGTTTTTTTAGCTATTGAATTACTGAAGCTATAGATTGAACTGACACACCTTGTCCATGGTGGGGAGAACCAATACAAAACAATCAACACCAAAAATAGTTATTGAACTTCATAGAAAAAGAAAAAATATTTGGTCATCTGGACAAAAGATCAAGTCACTTATAAGGGAAAATATTTTAAAGGCACTGGAAATCCCCATCTGAAAGGAAACTCCTGGTGGATCTTTTCCCAAGGTAGAGAGGC...
CTTAAAGCAACAATAAGACAATAGGTGGCTATCAGGATGCATTAACAAACATATAAGAAACTTTTTTTCAATAAAACAGTTTTTTTAGCTATTGAATTACTGAAGCTATAGATTGAACTGACACACCTTGTCCATGGTGGGGAGAACCAATACAAAACAATCAACACCAAAAATAGTTATTGAACTTCATAGAAAAAGAAAAAATATTTGGTCATCTGGACAAAAGATCAAGTCACTTATAAGGGAAAATATTTTAAAGGCACTGGAAATCCCCATCTGAAAGGAAACTCCTGGTGGATCTTTTCCCAAGGTAGAGAGGC...
Task1_train_48279
A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
GTACTGGGCATCGTCCACTCGGCCCCATCTCTCCCAGTCCGGTTTTCAGGATTCCTCCTGCTCCATCCCCTCCGTTATCTCCCCCACCAAGTTTCTGGGGCCTCCTGCCTTGCCTGGCTCCAGGGCACCCATCCTCATTGCCCCAGAGAAGCTCAGAGAGCAAGCCTGATACAGGCAATCCCCACAGCTCCCAGAGGTCCCGCCTACTGGGCTCAGGATCAAGTTCAAAGGCCATCTGGTTCCAAGGGAAAGGGGCCACCTCCCCACCCCCACACTCTTCTGCTGTCAGACTCTGCTCTCTGCCTGGAATTTCCTTCCTG...
GTACTGGGCATCGTCCACTCGGCCCCATCTCTCCCAGTCCGGTTTTCAGGATTCCTCCTGCTCCATCCCCTCCGTTATCTCCCCCACCAAGTTTCTGGGGCCTCCTGCCTTGCCTGGCTCCAGGGCACCCATCCTCATTGCCCCAGAGAAGCTCAGAGAGCAAGCCTGATACAGGCAATCCCCACAGCTCCCAGAGGTCCCGCCTACTGGGCTCAGGATCAAGTTCAAAGGCCATCTGGTTCCAAGGGAAAGGGGCCACCTCCCCACCCCCACACTCTTCTGCTGTCAGACTCTGCTCTCTGCCTGGAATTTCCTTCCTG...
Task1_train_48280
This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease?
Benign
CCGTTGTCATTTCAATAGATCACCTTGATGCCAAAAAGGCGGGGGAGCTCTCCACCCTGTTTGACGTGGGCGGAATCTTTGGTGAGTTCATTAAGACTTGTTCTGCTGCAACAATAATTTCGCAAGGCGCATGATCTCTGAGTTGATTCACTGCTCAGGGGAACAGGGTTCCCCAAGGTCTCATATCCCCTGAGTGGGCCCAGCCCAAGAGGGTCAGGCCGTCACCTGGGGGTGGTTTTATTGTCTCCCGTCCCTCCCCAGGGCCCTGACTCTGCACTTGAACAGCTTCCCTCAGAAATAGCATGCCAGCTGGACTCAGG...
CCGTTGTCATTTCAATAGATCACCTTGATGCCAAAAAGGCGGGGGAGCTCTCCACCCTGTTTGACGTGGGCGGAATCTTTGGTGAGTTCATTAAGACTTGTTCTGCTGCAACAATAATTTCGCAAGGCGCATGATCTCTGAGTTGATTCACTGCTCAGGGGAACAGGGTTCCCCAAGGTCTCATATCCCCTGAGTGGGCCCAGCCCAAGAGGGTCAGGCCGTCACCTGGGGGTGGTTTTATTGTCTCCCGTCCCTCCCCAGGGCCCTGACTCTGCACTTGAACAGCTTCCCTCAGAAATAGCATGCCAGCTGGACTCAGG...
Task1_train_48281
This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CATTCATGACAAAAGTGGCCTCCATTACTGTTAGTAAAACTGCATTTGCAGAAGCACGTTTTTGGCAGCTCACCTACACCTGTGGTCTCCAGCCTTCCCGCACCTGCCCCGCTGCTCACCCTTCTCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATG...
CATTCATGACAAAAGTGGCCTCCATTACTGTTAGTAAAACTGCATTTGCAGAAGCACGTTTTTGGCAGCTCACCTACACCTGTGGTCTCCAGCCTTCCCGCACCTGCCCCGCTGCTCACCCTTCTCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATG...
Task1_train_48282
Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
TCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATGCCCTGCCTTGGTCACCTTTGTATTGGACGTGTCCTGAAACTGCCTGAGTGTGCGTGAGCATGCAGACTTGTGTCTACATGGGCATGGAAAATTCTGGAAGGATCCACATCAGACCATTAGCAAT...
TCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATGCCCTGCCTTGGTCACCTTTGTATTGGACGTGTCCTGAAACTGCCTGAGTGTGCGTGAGCATGCAGACTTGTGTCTACATGGGCATGGAAAATTCTGGAAGGATCCACATCAGACCATTAGCAAT...
Task1_train_48283
A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
TAGCAATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTC...
TAGCAATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTC...
Task1_train_48284
A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
AATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTCAGCT...
AATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTCAGCT...
Task1_train_48285
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GCTTTTTCCCATGCATCTACCAAAACAGGCCATCCTACATGTGTATCAGAATTCATTTCAGTCCCTCTTGGTAAAATGCACCAGATGCTACAAAACACATTCTTAAACAGCAGTCCTTGGGCATTTAGGGGGATACGTTATTTGTTTTCATCATTTAAAAACACATCTTGACATAATTTCAGACTTTGAGAAAGTTGCAGAAATAGTACAAAGAATTCAGACATTTTAGTACATGTGGTTCATCATGCACCCGTGTTTTTACACACACACATGCACACACACATATATGCACACACACATGCATAATTTTTCTGAACCAC...
GCTTTTTCCCATGCATCTACCAAAACAGGCCATCCTACATGTGTATCAGAATTCATTTCAGTCCCTCTTGGTAAAATGCACCAGATGCTACAAAACACATTCTTAAACAGCAGTCCTTGGGCATTTAGGGGGATACGTTATTTGTTTTCATCATTTAAAAACACATCTTGACATAATTTCAGACTTTGAGAAAGTTGCAGAAATAGTACAAAGAATTCAGACATTTTAGTACATGTGGTTCATCATGCACCCGTGTTTTTACACACACACATGCACACACACATATATGCACACACACATGCATAATTTTTCTGAACCAC...
Task1_train_48286
This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
ATGGATGGATGGGTGGATGGGTGGATGGACAAATGGATGGAAGGGTGGATGGATGGATGGGTGGATGGGTGGATGAATGGACAGATGGATAAATGGGTGGAAGGATGGATGGATAAATGGATGGAAGGGCAGATGGATGGGTGGATGGGTAGATGGATGGAGGATGAATGGGTGGATGGATGGATGAATGGATGGGTTTTTGGGTGGGCAGATGGATGTGTGGACAAATGGATGGGTGATGGATGCACATATGAATCGGAATAAGAGATACATGAAATAATGTGTGCAGGGGGCTCAGTACACAGTAGGCCTCCGCTGAA...
ATGGATGGATGGGTGGATGGGTGGATGGACAAATGGATGGAAGGGTGGATGGATGGATGGGTGGATGGGTGGATGAATGGACAGATGGATAAATGGGTGGAAGGATGGATGGATAAATGGATGGAAGGGCAGATGGATGGGTGGATGGGTAGATGGATGGAGGATGAATGGGTGGATGGATGGATGAATGGATGGGTTTTTGGGTGGGCAGATGGATGTGTGGACAAATGGATGGGTGATGGATGCACATATGAATCGGAATAAGAGATACATGAAATAATGTGTGCAGGGGGCTCAGTACACAGTAGGCCTCCGCTGAA...
Task1_train_48287
Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TTAAAAGGAAAACAAGGCACTTATGAAAAATTTGAAGCATTCCAGCTTTTGATACACAAAAGGATTCTGAGTACCCAGCGATACCCCACATCATAGTCATCGCCAGCATGAACCTGTTCCTGTGTGGAGACTTCATCACTGGACAGCAGGTAGGAGCCGGCCTGAACGAATTAAGTGATGTACCCAGAAGCCTGCCCATTGCAGAAGCCTCTTCCCAAATCACGCGGCGCACACCTCACTCACATGCAGCGCACGGTCACGCAGTGCGCACCTCACACACACACAGCGCACGATCACGTGGCCTGCACCTCACTCACACA...
TTAAAAGGAAAACAAGGCACTTATGAAAAATTTGAAGCATTCCAGCTTTTGATACACAAAAGGATTCTGAGTACCCAGCGATACCCCACATCATAGTCATCGCCAGCATGAACCTGTTCCTGTGTGGAGACTTCATCACTGGACAGCAGGTAGGAGCCGGCCTGAACGAATTAAGTGATGTACCCAGAAGCCTGCCCATTGCAGAAGCCTCTTCCCAAATCACGCGGCGCACACCTCACTCACATGCAGCGCACGGTCACGCAGTGCGCACCTCACACACACACAGCGCACGATCACGTGGCCTGCACCTCACTCACACA...
Task1_train_48288
Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Benign
GGCTGCTCTCCTTCCTGCAGCCGCAGCCACGGGAGTTGCTGGCTAGATTCCCTCCCCTCAGCTGAGTGTTCCTGTCAGGACAGTGACCATCCTGCCCCTGCTCAGCCTCCTGAAGACCCCCGGGGCCTCTGGCTAGACCCCCACTAAACCTCCCAGTGAGGCCCTGCACTTACTGACGCCCACTGCAGTGGGATCAATTCCCTCAACACCATGGACCAGGCATGAGGCAGCACAGCACCAGCTCCCTCTGGGAGCCACCAGCTGCCAGCCCTGCCCTGGGGACCTTCAACGCCCAACTCTGAAGGCAGGTGCTCAGACCC...
GGCTGCTCTCCTTCCTGCAGCCGCAGCCACGGGAGTTGCTGGCTAGATTCCCTCCCCTCAGCTGAGTGTTCCTGTCAGGACAGTGACCATCCTGCCCCTGCTCAGCCTCCTGAAGACCCCCGGGGCCTCTGGCTAGACCCCCACTAAACCTCCCAGTGAGGCCCTGCACTTACTGACGCCCACTGCAGTGGGATCAATTCCCTCAACACCATGGACCAGGCATGAGGCAGCACAGCACCAGCTCCCTCTGGGAGCCACCAGCTGCCAGCCCTGCCCTGGGGACCTTCAACGCCCAACTCTGAAGGCAGGTGCTCAGACCC...
Task1_train_48289
This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
ATGACGCGATCCACAGCAGTCAGGTGGAAGCAGCCATTTATTATCAGTTATAACTCAGACATGTAGGGACATGCATTTAAAAGTCATTTTCCTACTGGGAAACCATCACTGCCTATGGGAAAGGAGCCAGAAGGTGGGTAAGAAGGGAGACTGACGCATACTCTTTGGTTTAATTTTGTTGTGTTTTAAGTTTTTAAACCATGTGCATCTATTACCTACCTGATACACAAAGACACAAAAACATATTGTAAATCACATATACATAAAAACATATATAGTAAAACCCGTATACACAAAAACACATAGAGTAGAAATGATGC...
ATGACGCGATCCACAGCAGTCAGGTGGAAGCAGCCATTTATTATCAGTTATAACTCAGACATGTAGGGACATGCATTTAAAAGTCATTTTCCTACTGGGAAACCATCACTGCCTATGGGAAAGGAGCCAGAAGGTGGGTAAGAAGGGAGACTGACGCATACTCTTTGGTTTAATTTTGTTGTGTTTTAAGTTTTTAAACCATGTGCATCTATTACCTACCTGATACACAAAGACACAAAAACATATTGTAAATCACATATACATAAAAACATATATAGTAAAACCCGTATACACAAAAACACATAGAGTAGAAATGATGC...
Task1_train_48290
A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TCAAAAGAAGAATTAGATAAATAAATAAATAAAATAAGTAAAAATAAAAAAAAACTTTTTATAGTGAAACACTTGTAGAGGTTTCCATTACCATATAAAATTTGAGTAACTTTATTCTCTAATGTAATGTTTAAATGCACCTCTGTTTCTGAATGTGCCTTGTTTCCAAAGTTAGTTTTGTGATATTTTGACAAGATGTGCAAGTATTTTAAGGTTGCTAATCTATGTTTCACACCCTAACCCTTTTTACTTTTGATAGGGGGATCACTAAAAACTTGAAGGCCATGCCCTCACTTTTCAACTAAGCAGAAAAGAGATTC...
TCAAAAGAAGAATTAGATAAATAAATAAATAAAATAAGTAAAAATAAAAAAAAACTTTTTATAGTGAAACACTTGTAGAGGTTTCCATTACCATATAAAATTTGAGTAACTTTATTCTCTAATGTAATGTTTAAATGCACCTCTGTTTCTGAATGTGCCTTGTTTCCAAAGTTAGTTTTGTGATATTTTGACAAGATGTGCAAGTATTTTAAGGTTGCTAATCTATGTTTCACACCCTAACCCTTTTTACTTTTGATAGGGGGATCACTAAAAACTTGAAGGCCATGCCCTCACTTTTCAACTAAGCAGAAAAGAGATTC...
Task1_train_48291
A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease.
Benign
AGAACGTGAATTAACAACTATTTAACTATGGCTTGTATTTTAAAAATCAAATACATATGTCTACAGAAGACAGAAGGGATTTCTTTATGAACATTTGTTATTTTTTTATTTTTTATTTTTTATTTTTTTATTTTTAGATTCCAAGACCTTTCTGAAGGTGAGGCGCGCCAAGAATCATCATTCATGGTGTTTTTCGTGAATATGGACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATC...
AGAACGTGAATTAACAACTATTTAACTATGGCTTGTATTTTAAAAATCAAATACATATGTCTACAGAAGACAGAAGGGATTTCTTTATGAACATTTGTTATTTTTTTATTTTTTATTTTTTATTTTTTTATTTTTAGATTCCAAGACCTTTCTGAAGGTGAGGCGCGCCAAGAATCATCATTCATGGTGTTTTTCGTGAATATGGACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATC...
Task1_train_48292
This sequence variant lies on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Benign
GACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATCTCTACTAAAAATGAAAAAATTAGCCAGGCGTGGTGGCGTGATCCTGTAGTCCCAGTCACTTGGGAGTCTAAGAGGGGAGGATCGCTTGAGCCCAGGAGGTCCAGGATGCAGTAAGTTGTAATCACACCACTGCACTCCAGCCTGGGTGACACAACAAGACCCCAACTTTTAAGAAAGACAGACCAGCCCTTACCTAGTCATACC...
GACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATCTCTACTAAAAATGAAAAAATTAGCCAGGCGTGGTGGCGTGATCCTGTAGTCCCAGTCACTTGGGAGTCTAAGAGGGGAGGATCGCTTGAGCCCAGGAGGTCCAGGATGCAGTAAGTTGTAATCACACCACTGCACTCCAGCCTGGGTGACACAACAAGACCCCAACTTTTAAGAAAGACAGACCAGCCCTTACCTAGTCATACC...
Task1_train_48293
This variant is present on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Benign
ACAAATAGCTGAGTAGACAACAGATAGTGTAAAATGCTAGTAAACTAGGAAGTGGTGAGGCTACAATATATATTATGTTTACTTTTAATATAGTTTATGTAGTCTGGGTGCAGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCTAAGGGAGGAGAATTGATTGAGCTTAGGAGTTCAGGACTAGCCTGGACAACATAGTGAGACTCTGTCTCAACAAAAAAATATAAAAATTAGCCAGGTGTGGCAGCACGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGAGGGTGGATCCCTTGATCCCAGGAGTTCAAG...
ACAAATAGCTGAGTAGACAACAGATAGTGTAAAATGCTAGTAAACTAGGAAGTGGTGAGGCTACAATATATATTATGTTTACTTTTAATATAGTTTATGTAGTCTGGGTGCAGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCTAAGGGAGGAGAATTGATTGAGCTTAGGAGTTCAGGACTAGCCTGGACAACATAGTGAGACTCTGTCTCAACAAAAAAATATAAAAATTAGCCAGGTGTGGCAGCACGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGAGGGTGGATCCCTTGATCCCAGGAGTTCAAG...
Task1_train_48294
A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
TCCAGGAGCCTCCCTGAACCCACATGTCCTTCCTGGCTGCTCTCGCCATCCTCCTTTAGGATTTATTTTTCAGTGAGTGAGCTGGCCGGCTTGGACACTAAAGCAGGGTGTTGAGTGTGTTTCTGGGGACTGTGTTGGGCTCCGTCAGTGCTGGTTCAACATCCACACCGACCCGGCTGCCCTTGCATGGATTCCAGGTTGCGGGAGGGCCCCGGGCTTTGGCAATGCCTTCCAGGCTTGGTGGAAGCTTCTCAGTGGGTGGTGGGCTGGCTGACCCGAGGGCCCAGAGATAGAAAAGGGGTCTCTGGTCTGCCCTCAGG...
TCCAGGAGCCTCCCTGAACCCACATGTCCTTCCTGGCTGCTCTCGCCATCCTCCTTTAGGATTTATTTTTCAGTGAGTGAGCTGGCCGGCTTGGACACTAAAGCAGGGTGTTGAGTGTGTTTCTGGGGACTGTGTTGGGCTCCGTCAGTGCTGGTTCAACATCCACACCGACCCGGCTGCCCTTGCATGGATTCCAGGTTGCGGGAGGGCCCCGGGCTTTGGCAATGCCTTCCAGGCTTGGTGGAAGCTTCTCAGTGGGTGGTGGGCTGGCTGACCCGAGGGCCCAGAGATAGAAAAGGGGTCTCTGGTCTGCCCTCAGG...
Task1_train_48295
A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic?
Benign
TGGCCCGTCTCCCCAGAGGACAGCAAGCTCTGTCCATATTGACCATGACTGGGTTCAGGCCTGAGACCTCAGGGCACCTGACTGCTCTGTGTGCAGTGTGTGTGAGGGGCAGGTGTACTCACCTGCCCCTCACTGCCTGCCAGAGGCCTCTGTGGGCAGCCGTGGGGTCCAGCCTGGCCCATTTTTTGTTTTGATGCTGCACTCATTGTCCGAGCCTGCTGGGTGGTCTGAGCTCTAAGTGTGGCATCCTGGTGCTGTGGAGGGCATGTCTTTGACCACGCTCAGGACCCCAGTATGCCCCAAATCAGTGCTGTGGCCAC...
TGGCCCGTCTCCCCAGAGGACAGCAAGCTCTGTCCATATTGACCATGACTGGGTTCAGGCCTGAGACCTCAGGGCACCTGACTGCTCTGTGTGCAGTGTGTGTGAGGGGCAGGTGTACTCACCTGCCCCTCACTGCCTGCCAGAGGCCTCTGTGGGCAGCCGTGGGGTCCAGCCTGGCCCATTTTTTGTTTTGATGCTGCACTCATTGTCCGAGCCTGCTGGGTGGTCTGAGCTCTAAGTGTGGCATCCTGGTGCTGTGGAGGGCATGTCTTTGACCACGCTCAGGACCCCAGTATGCCCCAAATCAGTGCTGTGGCCAC...
Task1_train_48296
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
GGTTCAGAGACAGAAGGTGGAATGGGGGCTGCCAGGGGCTGGCAGAGGGAGAATGGGAATGAGTGTTTAATAAAGGACAGAGGTTCCGTTTGGGAAGATGAGAAAGTTTGGGATATTGGTTGCACAATAGTGTGAGTGCATTTAACACTACTGAGCTGTAGTCTTCTCTCTCTCTCTCTCTTTTTTTTTTTATGATGGAGTCTTGCTCTGTCACCAAGGGCTGGCGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGTCCCGAGTAGCTGGGATTACAGGTCTG...
GGTTCAGAGACAGAAGGTGGAATGGGGGCTGCCAGGGGCTGGCAGAGGGAGAATGGGAATGAGTGTTTAATAAAGGACAGAGGTTCCGTTTGGGAAGATGAGAAAGTTTGGGATATTGGTTGCACAATAGTGTGAGTGCATTTAACACTACTGAGCTGTAGTCTTCTCTCTCTCTCTCTCTTTTTTTTTTTATGATGGAGTCTTGCTCTGTCACCAAGGGCTGGCGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGTCCCGAGTAGCTGGGATTACAGGTCTG...
Task1_train_48297
Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
TGTAATTCACTCATTTGAAGTTTATAATTCAATGGCTTTTAGTCTGTTTCAGGAATATGTGCAACCATTACCACAGTCAATATTATTGTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTGACTATCTTGCTCTCTTGCCTGGGCTGGAGTGCAGTGGCACGATCCCAGCTCACTGTAGCCTCAACCTTCTGGAGTCAAGAGATCCTCTTACTTTGGCTTCCTGAGTGGCAGGGACCACAGGTGTGGGCCACCACACCCAGCTATTTTTTTTCTTCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCC...
TGTAATTCACTCATTTGAAGTTTATAATTCAATGGCTTTTAGTCTGTTTCAGGAATATGTGCAACCATTACCACAGTCAATATTATTGTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTGACTATCTTGCTCTCTTGCCTGGGCTGGAGTGCAGTGGCACGATCCCAGCTCACTGTAGCCTCAACCTTCTGGAGTCAAGAGATCCTCTTACTTTGGCTTCCTGAGTGGCAGGGACCACAGGTGTGGGCCACCACACCCAGCTATTTTTTTTCTTCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCC...
Task1_train_48298
Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
TCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCCACTGCAACCTCTGCTTTTTGGGCTCAATTGCTCCTCCCACCTCCACCTCCTGTGTAGCTTGGACTACAGGAGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTTTTGCCATATTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAAGGAATCTACACACCTCGGTCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACCATGCCTGGCCACCACAGTCAATTTTAAAACATATTTATCACCCTAAAAAGAAACCCCATACTG...
TCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCCACTGCAACCTCTGCTTTTTGGGCTCAATTGCTCCTCCCACCTCCACCTCCTGTGTAGCTTGGACTACAGGAGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTTTTGCCATATTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAAGGAATCTACACACCTCGGTCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACCATGCCTGGCCACCACAGTCAATTTTAAAACATATTTATCACCCTAAAAAGAAACCCCATACTG...
Task1_train_48299
This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not?
Benign
CCCAGGGAGGTAGGGCCACCTCAGGTTTCCAGAGACCCCGGGGCTTCTGCCTCTCACTCTGCAGGGTCTGCCAGCCCCTTGCTGCCCAGTCCTGGGGTCCCTCTGGTGATCCCCAGGGGCTGTCTGCCGCCTGCCATCTCTCCTGAAGTTTCTGGTCTCCTCTGTGCAGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTGGTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCA...
CCCAGGGAGGTAGGGCCACCTCAGGTTTCCAGAGACCCCGGGGCTTCTGCCTCTCACTCTGCAGGGTCTGCCAGCCCCTTGCTGCCCAGTCCTGGGGTCCCTCTGGTGATCCCCAGGGGCTGTCTGCCGCCTGCCATCTCTCCTGAAGTTTCTGGTCTCCTCTGTGCAGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTGGTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCA...