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_42200
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
GAGAAAAGAAAGGAGGTTCTTATAAAGGCTTAACTCACCGTCAAAAATAAATATTTCAAGAAATTGACCTCCCCAGTCAGAGTGTCCACCCTGGACTCCAGGTCCACTTTGCTCACATAAGCAGCATCCACATCCTGAATAGCAGGCAGAAACAGTTTGACTTTATTGCCCAGGCATTGCCTGCCACCAGCTCACTGGCTGGCTCAGGCGAGTGGCAGAGCCACTCTAGGTTTATTTCCTTACTTAAAAAATTCATCACCGCACTCGAATAAGGGACCCACAAGTCCTGGCTTTCCTGGCCAGAAGGAGATGTGACACCA...
GAGAAAAGAAAGGAGGTTCTTATAAAGGCTTAACTCACCGTCAAAAATAAATATTTCAAGAAATTGACCTCCCCAGTCAGAGTGTCCACCCTGGACTCCAGGTCCACTTTGCTCACATAAGCAGCATCCACATCCTGAATAGCAGGCAGAAACAGTTTGACTTTATTGCCCAGGCATTGCCTGCCACCAGCTCACTGGCTGGCTCAGGCGAGTGGCAGAGCCACTCTAGGTTTATTTCCTTACTTAAAAAATTCATCACCGCACTCGAATAAGGGACCCACAAGTCCTGGCTTTCCTGGCCAGAAGGAGATGTGACACCA...
Task1_train_42201
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
CCAGGGTGTTTTCCTGTGGGGAGTTGGGGAGACAACCGATTATGTTTCTTGCAGCGTCTCTTAAAAGGCCAGTAAGAGCAGCAATTCAGAACTGCCTGCCCCTGCTCAAAGTACCCAGAGCTAGGCCAAGGGAAAGTGGAAAGGGCACTACCTCCGGCTTGTGAGCCATGAAAAGATGGGCAAGGATTTATTGATCATTCAGGTATAGGAACTTTAAAATGCCCTCTTCTCCAATTCTTGAGGCCAGGGCTACTGTACTTTAGAGATTAGATGGGCTGAGCTAAGACTCAGAAATACGGAGACCAGGCCCTGGCACTCCC...
CCAGGGTGTTTTCCTGTGGGGAGTTGGGGAGACAACCGATTATGTTTCTTGCAGCGTCTCTTAAAAGGCCAGTAAGAGCAGCAATTCAGAACTGCCTGCCCCTGCTCAAAGTACCCAGAGCTAGGCCAAGGGAAAGTGGAAAGGGCACTACCTCCGGCTTGTGAGCCATGAAAAGATGGGCAAGGATTTATTGATCATTCAGGTATAGGAACTTTAAAATGCCCTCTTCTCCAATTCTTGAGGCCAGGGCTACTGTACTTTAGAGATTAGATGGGCTGAGCTAAGACTCAGAAATACGGAGACCAGGCCCTGGCACTCCC...
Task1_train_42202
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
TATTCTTGTTAATGGAGCAGGCACATCCACATATCTGAGAAGATATGGATTGGGTCTGCATATCTTGCCAATGTGTGCCCACTGGTGTTGACCATTCCCTCCTCATCCCATGACTCCTAGTACACTTGACATCACCTTCACTCTCACTTTCCTTCTCATACTTGGGTTCTGCTTCCTCCATCAGATTGGGAGCTACCCAAGGACAGAGGGTTAGCTACTCCCTGAGCACATGATGCATTGGGCAGAAACTCAGCAGAAAGATCTCTCAATTCTTGACACTCCTTTAGCATTTGATAAACACTTGCTAAGACTTTATCTGC...
TATTCTTGTTAATGGAGCAGGCACATCCACATATCTGAGAAGATATGGATTGGGTCTGCATATCTTGCCAATGTGTGCCCACTGGTGTTGACCATTCCCTCCTCATCCCATGACTCCTAGTACACTTGACATCACCTTCACTCTCACTTTCCTTCTCATACTTGGGTTCTGCTTCCTCCATCAGATTGGGAGCTACCCAAGGACAGAGGGTTAGCTACTCCCTGAGCACATGATGCATTGGGCAGAAACTCAGCAGAAAGATCTCTCAATTCTTGACACTCCTTTAGCATTTGATAAACACTTGCTAAGACTTTATCTGC...
Task1_train_42203
A variant found on Chromosome 12 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TAATGGAGCAGGCACATCCACATATCTGAGAAGATATGGATTGGGTCTGCATATCTTGCCAATGTGTGCCCACTGGTGTTGACCATTCCCTCCTCATCCCATGACTCCTAGTACACTTGACATCACCTTCACTCTCACTTTCCTTCTCATACTTGGGTTCTGCTTCCTCCATCAGATTGGGAGCTACCCAAGGACAGAGGGTTAGCTACTCCCTGAGCACATGATGCATTGGGCAGAAACTCAGCAGAAAGATCTCTCAATTCTTGACACTCCTTTAGCATTTGATAAACACTTGCTAAGACTTTATCTGCTGCTTAATG...
TAATGGAGCAGGCACATCCACATATCTGAGAAGATATGGATTGGGTCTGCATATCTTGCCAATGTGTGCCCACTGGTGTTGACCATTCCCTCCTCATCCCATGACTCCTAGTACACTTGACATCACCTTCACTCTCACTTTCCTTCTCATACTTGGGTTCTGCTTCCTCCATCAGATTGGGAGCTACCCAAGGACAGAGGGTTAGCTACTCCCTGAGCACATGATGCATTGGGCAGAAACTCAGCAGAAAGATCTCTCAATTCTTGACACTCCTTTAGCATTTGATAAACACTTGCTAAGACTTTATCTGCTGCTTAATG...
Task1_train_42204
A mutation located on Chromosome 12 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
GAAAGGTGTGAGAAACAGCTTCACTAAGGGCAGATCCTGCTGACATCTGAGTGTTTAAGTCCAGAACTGCAGTTGCAAGATTTGTTAGGCAAACTAGAATAAACAAACATCTTTCTTGAGTGAGCTTTCCAAGAAGTTCAACCTCCAACAAAAACATCTGGGAGAACAGAGTTTCCCAGACACTGCGCTATCCCACATGTGACACCATGAAAGGATGGAGAGAGCATGTAGCAGAGGAGCAGAGCTTATGCTGCTTCTCTCCGGGGCCCAGAAGACCTCTGGGATCTCTCCGTTAAACCCAGCCCCACCTGCTTCTTGAC...
GAAAGGTGTGAGAAACAGCTTCACTAAGGGCAGATCCTGCTGACATCTGAGTGTTTAAGTCCAGAACTGCAGTTGCAAGATTTGTTAGGCAAACTAGAATAAACAAACATCTTTCTTGAGTGAGCTTTCCAAGAAGTTCAACCTCCAACAAAAACATCTGGGAGAACAGAGTTTCCCAGACACTGCGCTATCCCACATGTGACACCATGAAAGGATGGAGAGAGCATGTAGCAGAGGAGCAGAGCTTATGCTGCTTCTCTCCGGGGCCCAGAAGACCTCTGGGATCTCTCCGTTAAACCCAGCCCCACCTGCTTCTTGAC...
Task1_train_42205
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
GGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCA...
GGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCA...
Task1_train_42206
With a mutation on Chromosome 12, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
TTACAGGCATGAGCCACCAAGCCCAGCCTAAACTCATCCTCTTGCCACAATTTTATTTGCAAAGCACCATGCTTGGAGAAGGAAGGTGAGGGGGAACTGAATGAACCAAGCTGTCCTTCATGAAGGTAAGGAGAGGGAAATGGGCCAGGAGACGCCACTGCCCAGCAGTCAGGGGGCATGTAGAAGGGGCCAAGACTCTGAGACAGGGTGGGCCATGGCATCTTCCCACTCCTGCCCTGTCACTCACTTCTTCTTGAAGTCTTCCACCAGGTCCTCCATGTTCTTCAGCTCAGAGTCCAGGCGCCCTCTCTCCCCGAGGA...
TTACAGGCATGAGCCACCAAGCCCAGCCTAAACTCATCCTCTTGCCACAATTTTATTTGCAAAGCACCATGCTTGGAGAAGGAAGGTGAGGGGGAACTGAATGAACCAAGCTGTCCTTCATGAAGGTAAGGAGAGGGAAATGGGCCAGGAGACGCCACTGCCCAGCAGTCAGGGGGCATGTAGAAGGGGCCAAGACTCTGAGACAGGGTGGGCCATGGCATCTTCCCACTCCTGCCCTGTCACTCACTTCTTCTTGAAGTCTTCCACCAGGTCCTCCATGTTCTTCAGCTCAGAGTCCAGGCGCCCTCTCTCCCCGAGGA...
Task1_train_42207
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AAAGAGAATGAAATTATGTCTTTTTGCAGCAATGTGGATGGAACTGGAGGCCATTATCTTAAGTGAAACAACTCAGGCACAGAAAGACAAATAACACATGTCCTCACTTATAAGTGGGAGCTAAATCATGTGTACATGTGGACATAGAGCATGGAATGATAGACAATGGAGACTTGAAAAAGGGAGGGCTGGGAGGGGCTGGATAATGAGAAATTACTTATTGGATATAATGTATGTTATCCCAGCAATGGATACTCTAAAAGCCCTGACTTCACCACAACACAAACTATCCACGTAACAAAATTACACTTGTACCCCAT...
AAAGAGAATGAAATTATGTCTTTTTGCAGCAATGTGGATGGAACTGGAGGCCATTATCTTAAGTGAAACAACTCAGGCACAGAAAGACAAATAACACATGTCCTCACTTATAAGTGGGAGCTAAATCATGTGTACATGTGGACATAGAGCATGGAATGATAGACAATGGAGACTTGAAAAAGGGAGGGCTGGGAGGGGCTGGATAATGAGAAATTACTTATTGGATATAATGTATGTTATCCCAGCAATGGATACTCTAAAAGCCCTGACTTCACCACAACACAAACTATCCACGTAACAAAATTACACTTGTACCCCAT...
Task1_train_42208
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TAAGACCTCTCCACTGAACAAAGCATGCTGTCTGCCCCTACAGAGTTAGTGGGAGGCTGAACAGGCACCAGGGGTGGCTGGTTAATAGGCAGCCACTTAGCCAGGTCTGGCCTTGAGCAGCTTACATATTCCCTCTGAGCCTTGGTCTCCTCTTGTGAGCCATGTACAGCCCTGGAGTGGCGATGGTATCAAACTAATGTACCTAAGTAAGCATGGCGATTGGGATGTGGTGAGTGTGTGATTATTGCTGTGTCAGGCATCAGGATGTTAATCAATGGACACAATTTCAGTTCCCCAGGCAGGACAGACTGCAGCCACAG...
TAAGACCTCTCCACTGAACAAAGCATGCTGTCTGCCCCTACAGAGTTAGTGGGAGGCTGAACAGGCACCAGGGGTGGCTGGTTAATAGGCAGCCACTTAGCCAGGTCTGGCCTTGAGCAGCTTACATATTCCCTCTGAGCCTTGGTCTCCTCTTGTGAGCCATGTACAGCCCTGGAGTGGCGATGGTATCAAACTAATGTACCTAAGTAAGCATGGCGATTGGGATGTGGTGAGTGTGTGATTATTGCTGTGTCAGGCATCAGGATGTTAATCAATGGACACAATTTCAGTTCCCCAGGCAGGACAGACTGCAGCCACAG...
Task1_train_42209
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
ACAGAGTTAGTGGGAGGCTGAACAGGCACCAGGGGTGGCTGGTTAATAGGCAGCCACTTAGCCAGGTCTGGCCTTGAGCAGCTTACATATTCCCTCTGAGCCTTGGTCTCCTCTTGTGAGCCATGTACAGCCCTGGAGTGGCGATGGTATCAAACTAATGTACCTAAGTAAGCATGGCGATTGGGATGTGGTGAGTGTGTGATTATTGCTGTGTCAGGCATCAGGATGTTAATCAATGGACACAATTTCAGTTCCCCAGGCAGGACAGACTGCAGCCACAGACAGCTAGCTGCAGTTGCACCATTTATTGAGACACAGAC...
ACAGAGTTAGTGGGAGGCTGAACAGGCACCAGGGGTGGCTGGTTAATAGGCAGCCACTTAGCCAGGTCTGGCCTTGAGCAGCTTACATATTCCCTCTGAGCCTTGGTCTCCTCTTGTGAGCCATGTACAGCCCTGGAGTGGCGATGGTATCAAACTAATGTACCTAAGTAAGCATGGCGATTGGGATGTGGTGAGTGTGTGATTATTGCTGTGTCAGGCATCAGGATGTTAATCAATGGACACAATTTCAGTTCCCCAGGCAGGACAGACTGCAGCCACAGACAGCTAGCTGCAGTTGCACCATTTATTGAGACACAGAC...
Task1_train_42210
Assess the clinical impact of this variant found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
CTGCATTAAAATCATCTGTTTAAAATGTAAATCAACTGTTTAAAATCACACACTTTGGGAGCCTGAAGCTGGAGGAGTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAGGCAACATAGCAAGACTGTCTCCACTAAAAATCAAGACAATTAGCCAGGTGTAGTGGCATGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAAGAGATGGAGGCTGCAGTGAGCTATGACTGTACCACTGCACTCCAGTCTGGGAAACAGAGCAAGACCCTGTCTCAAAAAATAATAATAATAAATTAA...
CTGCATTAAAATCATCTGTTTAAAATGTAAATCAACTGTTTAAAATCACACACTTTGGGAGCCTGAAGCTGGAGGAGTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAGGCAACATAGCAAGACTGTCTCCACTAAAAATCAAGACAATTAGCCAGGTGTAGTGGCATGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATCACTTGAGCCCAAGAGATGGAGGCTGCAGTGAGCTATGACTGTACCACTGCACTCCAGTCTGGGAAACAGAGCAAGACCCTGTCTCAAAAAATAATAATAATAAATTAA...
Task1_train_42211
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AGGACCTTCAGTGTTTGACCTTAAAGTCCCTGCTGGGCTTGAGAAGTAAGAGTCAAAAGAAGAGATAAGAAAAGAGATGTGGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCTGGTGGATCACCTGATGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGAATTGCTGGAACCTGGGAGGTGGAGGTTGCATTAAGCCGAGATCACGCC...
AGGACCTTCAGTGTTTGACCTTAAAGTCCCTGCTGGGCTTGAGAAGTAAGAGTCAAAAGAAGAGATAAGAAAAGAGATGTGGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCTGGTGGATCACCTGATGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGAATTGCTGGAACCTGGGAGGTGGAGGTTGCATTAAGCCGAGATCACGCC...
Task1_train_42212
A mutation found on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
TGGGCAGACACCTGAAGTTCCTGGTACTGAGAGGGGAACAGAGGGGACACCATTAGTTGAGAGGACTGCCACCTTTGACCATCTCCTCATGTTTGAAAAGCCACCTCTCACTCCTTATTTGGAGTGTGGGTTAAACGCCTGAGCCAGGACACAGTGGGATATACTTCCAGAAGTCCAAGCTTATCTCCCACGGTTCCTCTGCATCGCCTCCCTCCTGGAGGGGAAATGGCCCTGCCCACCCAGCCCCAGACCTTCAGGGAGGTAACTGGAACTGCCCCAATGGGATCGAGGTGGATGACCACCCTAGAGTTTGGGCATGG...
TGGGCAGACACCTGAAGTTCCTGGTACTGAGAGGGGAACAGAGGGGACACCATTAGTTGAGAGGACTGCCACCTTTGACCATCTCCTCATGTTTGAAAAGCCACCTCTCACTCCTTATTTGGAGTGTGGGTTAAACGCCTGAGCCAGGACACAGTGGGATATACTTCCAGAAGTCCAAGCTTATCTCCCACGGTTCCTCTGCATCGCCTCCCTCCTGGAGGGGAAATGGCCCTGCCCACCCAGCCCCAGACCTTCAGGGAGGTAACTGGAACTGCCCCAATGGGATCGAGGTGGATGACCACCCTAGAGTTTGGGCATGG...
Task1_train_42213
Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Benign
CTAGGCAGATGTCCCATTTTCCCAGGGGACCCCTGCAGGTAGAGTGATAGCCTGTCCTAAATCAGGACCTCCCACCTTTTCCCTCCCAGCCTAGGACTAGGCTCCGTGCACAGTGGATGCTCAGAACGTAAGTGGAGCACTGGCCCCCACCCTCACCTTCTTGAGGACCACAAAGTCGTTCTCAAGTGTGGCACGCCTGTGGGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAA...
CTAGGCAGATGTCCCATTTTCCCAGGGGACCCCTGCAGGTAGAGTGATAGCCTGTCCTAAATCAGGACCTCCCACCTTTTCCCTCCCAGCCTAGGACTAGGCTCCGTGCACAGTGGATGCTCAGAACGTAAGTGGAGCACTGGCCCCCACCCTCACCTTCTTGAGGACCACAAAGTCGTTCTCAAGTGTGGCACGCCTGTGGGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAA...
Task1_train_42214
This mutation on Chromosome 12 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
CTGGCCCCCACCCTCACCTTCTTGAGGACCACAAAGTCGTTCTCAAGTGTGGCACGCCTGTGGGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAATGCCCCCAAACAAGACAATAACCAGCCCTTCTCTCCTTTCCTGCCACGTCCTAGCTATGTACCTGTGCCACCCTTTCAGCCCATGTCCTTTTGATGACGACAGCCACATTGTTTCAGTTTATAAGGCACATTCGAATAC...
CTGGCCCCCACCCTCACCTTCTTGAGGACCACAAAGTCGTTCTCAAGTGTGGCACGCCTGTGGGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAATGCCCCCAAACAAGACAATAACCAGCCCTTCTCTCCTTTCCTGCCACGTCCTAGCTATGTACCTGTGCCACCCTTTCAGCCCATGTCCTTTTGATGACGACAGCCACATTGTTTCAGTTTATAAGGCACATTCGAATAC...
Task1_train_42215
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAATGCCCCCAAACAAGACAATAACCAGCCCTTCTCTCCTTTCCTGCCACGTCCTAGCTATGTACCTGTGCCACCCTTTCAGCCCATGTCCTTTTGATGACGACAGCCACATTGTTTCAGTTTATAAGGCACATTCGAATACCTTTTCCCACTTGCTACTCACACCCATCACTTGAGGTAGGCAGTTTGGGTTTTATCAGAGAG...
GGCCTCCTCCTCATACCTGCCAAATAAGTAGAGAAGGATGCAGTTTGAGGCTCCACGGTCAGAGCTCATGCCCCCATGTCCGAGCATGACCTCCCTGAAAAGGACTCCTTGCCTTAGAATGCCCCCAAACAAGACAATAACCAGCCCTTCTCTCCTTTCCTGCCACGTCCTAGCTATGTACCTGTGCCACCCTTTCAGCCCATGTCCTTTTGATGACGACAGCCACATTGTTTCAGTTTATAAGGCACATTCGAATACCTTTTCCCACTTGCTACTCACACCCATCACTTGAGGTAGGCAGTTTGGGTTTTATCAGAGAG...
Task1_train_42216
A variant on Chromosome 12 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
GGTCTCACAACCCTGTGTAACCTCAATCTCTCATGCTGCAGCTTCAGCCCTTTTCCTCTGGCTCTGTCCTCAGTGGAGCTGGAGAATAATGGCTGGTCTCTATCCTCTTTACCAAAGCCCTTCATCGATTGGAAGACAGTGATTCAGTTCCCACTCCTCAGCTTTCTTGCCTCTAGTTAAACAGTACTACTTTCTTCCCCCTTCAGTGGAACTCTGTGAGAGCATGGGCTCAGAAGGAGTCAGGGAAGGGGTTCAAGCCAGAAAAGAGGGAGGAAACACACACAAGCTAAGGGGCTGGAAATACAGGAGTTGGTGGACAG...
GGTCTCACAACCCTGTGTAACCTCAATCTCTCATGCTGCAGCTTCAGCCCTTTTCCTCTGGCTCTGTCCTCAGTGGAGCTGGAGAATAATGGCTGGTCTCTATCCTCTTTACCAAAGCCCTTCATCGATTGGAAGACAGTGATTCAGTTCCCACTCCTCAGCTTTCTTGCCTCTAGTTAAACAGTACTACTTTCTTCCCCCTTCAGTGGAACTCTGTGAGAGCATGGGCTCAGAAGGAGTCAGGGAAGGGGTTCAAGCCAGAAAAGAGGGAGGAAACACACACAAGCTAAGGGGCTGGAAATACAGGAGTTGGTGGACAG...
Task1_train_42217
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
CACACAATTTATTGGTTGAAGAGGGGGAACTAAAGAGAGGGAACACTGGGCCGGGTGCGGTGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGATCAGCCTGAACAACCTGGTGAAACCCCATCTGTTTTAAAAATTACAAAAATTAGCCAGATGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCATGCCAATGCATTCCAGCCAGGGCGACAGAGCGAGA...
CACACAATTTATTGGTTGAAGAGGGGGAACTAAAGAGAGGGAACACTGGGCCGGGTGCGGTGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGATCAGCCTGAACAACCTGGTGAAACCCCATCTGTTTTAAAAATTACAAAAATTAGCCAGATGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCATGCCAATGCATTCCAGCCAGGGCGACAGAGCGAGA...
Task1_train_42218
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
TACTGAAACAGTTGTTATGGAGGCCTGTATTAGTGAAACCTGGCCTGCCACATCCCCTCTCCCTATGTTGGGCTTGGGAAGCAATGAAAAAAACAGCTCCAAGGATCCACAGGCTCAGCAACAGCACTGCCTTTTGGTAAAATTTTTGTTGTTAGTTATACAAGTATTAAAAGGACAAAATCTACTGCTAGGTTTGCATAAGAAAAAAATAAATTAAAAAAACTAAAAATGATAAAATCTCAGTAAAAAGCTCAAATACATGTTTTTGTGTAAAGGAGGTCCTTCTTGACCGCCTCCTTCAATCCCACACTGCTCTCGGA...
TACTGAAACAGTTGTTATGGAGGCCTGTATTAGTGAAACCTGGCCTGCCACATCCCCTCTCCCTATGTTGGGCTTGGGAAGCAATGAAAAAAACAGCTCCAAGGATCCACAGGCTCAGCAACAGCACTGCCTTTTGGTAAAATTTTTGTTGTTAGTTATACAAGTATTAAAAGGACAAAATCTACTGCTAGGTTTGCATAAGAAAAAAATAAATTAAAAAAACTAAAAATGATAAAATCTCAGTAAAAAGCTCAAATACATGTTTTTGTGTAAAGGAGGTCCTTCTTGACCGCCTCCTTCAATCCCACACTGCTCTCGGA...
Task1_train_42219
A change on Chromosome 12 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Benign
GAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGTGCGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGACTGGGCAACAGGAGTGAAATTCCGTCTCAAGAAAAAAAATGAAAAACAAAAAGATAAATAAAACTTCAATGGACTCCTTCCCCAGAGAAAAGCAGATATGCACATATGCATAACTGGAGGTGGAGACAGGCTTACAGACCTCTGAAGTCCATTCATGCCCTCCCAGAG...
GAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGTGCGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGACTGGGCAACAGGAGTGAAATTCCGTCTCAAGAAAAAAAATGAAAAACAAAAAGATAAATAAAACTTCAATGGACTCCTTCCCCAGAGAAAAGCAGATATGCACATATGCATAACTGGAGGTGGAGACAGGCTTACAGACCTCTGAAGTCCATTCATGCCCTCCCAGAG...
Task1_train_42220
With a mutation on Chromosome 12, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
TCTCCCACTAGATAATTCCATGACTTGCTCTCACTTCTTTCAGGTCTTTGCTCAGTGACACCTTCCCTGACCACTGAATTTTGGATTGCCACCTCCAGCCTTCCTTATTCCTTTCTCAGCTTTATTTTTCTCCATAACCCAGCCACTCGGGTTCCATTCAGCCTCGGTCAGCTCTGCCTCCTCTGCCAGGGTTTGACAGACTGCATCTCCCCCAAAGCCCTTAAGGGTGGTCATACCTGATTGGGGGCTGGTCTAACTGTCACTTCTGATGGAGTCACCTCTCCGAGTCACTTTTTATCACATCACCCTGGGATAAGAAT...
TCTCCCACTAGATAATTCCATGACTTGCTCTCACTTCTTTCAGGTCTTTGCTCAGTGACACCTTCCCTGACCACTGAATTTTGGATTGCCACCTCCAGCCTTCCTTATTCCTTTCTCAGCTTTATTTTTCTCCATAACCCAGCCACTCGGGTTCCATTCAGCCTCGGTCAGCTCTGCCTCCTCTGCCAGGGTTTGACAGACTGCATCTCCCCCAAAGCCCTTAAGGGTGGTCATACCTGATTGGGGGCTGGTCTAACTGTCACTTCTGATGGAGTCACCTCTCCGAGTCACTTTTTATCACATCACCCTGGGATAAGAAT...
Task1_train_42221
This variant is found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
CCGCCCCCTCATGTGGTGTATGTACCTATTGCATGCATATCCCCTTCCACCATACACACTCACTGGTTCCTCTCCAGTTTGGTCTGTTCCCTTTCTCTGGTCAGTTGCACAGGTGCTTCCGGCTACAAGTAGAGAGTTTGAAGAAACTGGGTAAACAGGCCCAGGGCTGCAAGATGGTGATTTTGTGGCTGGCAGCCCTGCAACCCTGTAGCCCTGAACACATGGCTGAGCCAGTCACTTTCTGGGTTCGGGTCAAGATGGATGCGGCCAGGGCTGGAGACAAGGAGCTACAGCTAAAGTGAGTTGAGGGCCAGACGCAG...
CCGCCCCCTCATGTGGTGTATGTACCTATTGCATGCATATCCCCTTCCACCATACACACTCACTGGTTCCTCTCCAGTTTGGTCTGTTCCCTTTCTCTGGTCAGTTGCACAGGTGCTTCCGGCTACAAGTAGAGAGTTTGAAGAAACTGGGTAAACAGGCCCAGGGCTGCAAGATGGTGATTTTGTGGCTGGCAGCCCTGCAACCCTGTAGCCCTGAACACATGGCTGAGCCAGTCACTTTCTGGGTTCGGGTCAAGATGGATGCGGCCAGGGCTGGAGACAAGGAGCTACAGCTAAAGTGAGTTGAGGGCCAGACGCAG...
Task1_train_42222
This genomic variant is located on Chromosome 12. Can you determine its pathogenicity and name any linked disease?
Benign
CCATTAATAAAAAGTGTCCCTGGCTCAGAGCCCTCTAAGACTCAGGGCCAAAAACGTTCTGGACGAGGGCGCCAAAAGTTAGCCTCTGCTCCCCTGCGCCTCAATAATACCTCTCAGAAAGGTCTGGAAGGTAGAGGACTGCCCTGCACACCTAAACCCCCAGACCGGATCAGGCAAGCTGGCCCTCATGTCCCCTTCACGGTGTTTGAGGAAGTCTGCCCTACAGAGAGCAAGCCTGAAGTACCCCAGGCCCCCAGGGTACAACAGAGAGTCCAGACGCGCCTCAAGGTGAGGTGGGACTGTTGCTAGGTGGTGGTGAT...
CCATTAATAAAAAGTGTCCCTGGCTCAGAGCCCTCTAAGACTCAGGGCCAAAAACGTTCTGGACGAGGGCGCCAAAAGTTAGCCTCTGCTCCCCTGCGCCTCAATAATACCTCTCAGAAAGGTCTGGAAGGTAGAGGACTGCCCTGCACACCTAAACCCCCAGACCGGATCAGGCAAGCTGGCCCTCATGTCCCCTTCACGGTGTTTGAGGAAGTCTGCCCTACAGAGAGCAAGCCTGAAGTACCCCAGGCCCCCAGGGTACAACAGAGAGTCCAGACGCGCCTCAAGGTGAGGTGGGACTGTTGCTAGGTGGTGGTGAT...
Task1_train_42223
A genetic alteration is present on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAACCCATGTTTTAACTGAGCATCAGGTTGGGATCCAAACCAAGAAGAGCTGGGCATAGGAGTTACTTTCTCAGTGCTCTGAGAGTAGCACTTTTCTACATACCACAGGTGTACTGTTATGGAGGCCTATTTTGTAGGGTAATTTTGCATAAAGTTTCTGCCCCGAGACTCTTGAGGCA...
CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAACCCATGTTTTAACTGAGCATCAGGTTGGGATCCAAACCAAGAAGAGCTGGGCATAGGAGTTACTTTCTCAGTGCTCTGAGAGTAGCACTTTTCTACATACCACAGGTGTACTGTTATGGAGGCCTATTTTGTAGGGTAATTTTGCATAAAGTTTCTGCCCCGAGACTCTTGAGGCA...
Task1_train_42224
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
ACAAAGGCCATAGGGTGGGAGCCTCATGTCTTCTGGGGACTCGTCCTCTGAGTCTGTCAGAGCTGCCGGGCAGCCTGTAGGAGATGAAGCAGGCAGAGAAGAAAAAAGGATGTGTTGTGAGGAGTTGGACCAGCTGTCTCCTCTGGATGAGGGGTATCATTAGACTAAACAGGGGCCAGGGTCTGGGAAAGAAAAGGCAAAACACATAGAAGGCAAAGGCAGCTCCCAGCAAGGTTACATGGAGCCTTCCTCAACAGCGGGAGGTAGAGTGGGGAAGAGGTGTTACAAGATTGGGGCTACACGGACTCAGCCCCACAGCG...
ACAAAGGCCATAGGGTGGGAGCCTCATGTCTTCTGGGGACTCGTCCTCTGAGTCTGTCAGAGCTGCCGGGCAGCCTGTAGGAGATGAAGCAGGCAGAGAAGAAAAAAGGATGTGTTGTGAGGAGTTGGACCAGCTGTCTCCTCTGGATGAGGGGTATCATTAGACTAAACAGGGGCCAGGGTCTGGGAAAGAAAAGGCAAAACACATAGAAGGCAAAGGCAGCTCCCAGCAAGGTTACATGGAGCCTTCCTCAACAGCGGGAGGTAGAGTGGGGAAGAGGTGTTACAAGATTGGGGCTACACGGACTCAGCCCCACAGCG...
Task1_train_42225
This alteration on Chromosome 12 may affect genome function. Does it lead to a disease or is it benign?
Benign
TACTTCTTGGGCTACAGCTATCCAGGAGGCTGACAGACTTGTAGGAGGGCAGGACAGGGCTGAGAAATAGGAAGGAGGCACTAAGATCTGGTCACAGCCCCAGGGACAGAGGCTGGGGGCTTTGACTAGGGAGTGGCCGCTGGGCCTCCCCTGATGCCACAGCATCCACCGCTCCTTTCCACTGTCTGGTTAGTCTCTTCTGGAGACCCATACCTGGCCCCACCACCCACCTTACAGTCCTCAAAATCATCCAAGGATAAGAACCCCAAACCTAGTCCCCCCCACCATATTCTTCCTGGACCCCTACACTAGGCTTCTTT...
TACTTCTTGGGCTACAGCTATCCAGGAGGCTGACAGACTTGTAGGAGGGCAGGACAGGGCTGAGAAATAGGAAGGAGGCACTAAGATCTGGTCACAGCCCCAGGGACAGAGGCTGGGGGCTTTGACTAGGGAGTGGCCGCTGGGCCTCCCCTGATGCCACAGCATCCACCGCTCCTTTCCACTGTCTGGTTAGTCTCTTCTGGAGACCCATACCTGGCCCCACCACCCACCTTACAGTCCTCAAAATCATCCAAGGATAAGAACCCCAAACCTAGTCCCCCCCACCATATTCTTCCTGGACCCCTACACTAGGCTTCTTT...
Task1_train_42226
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
TGACGTTTTACAGCCCTATAAAAGCTGTAGCGACGAGGCAAGCGCTCCTACCACCGCTGGCAGATTTAGTCTAATAAATAAAACATAAACAGTTAACTTTATGTGTCACTTTTATTGTTATCAAGTAAAATATAGCTGAGCCCTGGCAAGCTATGATTTTAAACTATAATTGTTATCAAGTACAACAAGGGGACCCGGCTCCCTCCCTGGGCTCTCCCCTCCGCTACCCCCCGCAACTCTGAGTTATGGGCGATCAGTTAATTGGAATCGGTGGCATGACAGGACCACCCCTAGCTGGGGGGGGGGGGTGGTGGTTAGGA...
TGACGTTTTACAGCCCTATAAAAGCTGTAGCGACGAGGCAAGCGCTCCTACCACCGCTGGCAGATTTAGTCTAATAAATAAAACATAAACAGTTAACTTTATGTGTCACTTTTATTGTTATCAAGTAAAATATAGCTGAGCCCTGGCAAGCTATGATTTTAAACTATAATTGTTATCAAGTACAACAAGGGGACCCGGCTCCCTCCCTGGGCTCTCCCCTCCGCTACCCCCCGCAACTCTGAGTTATGGGCGATCAGTTAATTGGAATCGGTGGCATGACAGGACCACCCCTAGCTGGGGGGGGGGGGTGGTGGTTAGGA...
Task1_train_42227
With a mutation on Chromosome 12, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GAGTATAGGTGTCTCTTTAGAGAAGTTTGGTGGTGTGGGAAAATAAGCAGAATTCGGTGGATTGTCAGGGTCAAGCAAGGATCTTCTTAGAATACGGGAGGCTTTGAACTTATTTGTTGGGAGAAGAGAATAAGCCAGTGGAGAAGGAGAGATTAAAGTATTAAATAGATAACTGATACAGTGAAATTCTAAAAGGAAGTTGGTGGGAATGGGACCCAAGGTAGAGATTGAGTAACTACTTTTACTTGAGAGCAGGGCCTGTGTTGTATTTATACACTGCTCCCTTTAACCCCCTCAAACCTGGAAGAGTACCTTGATTT...
GAGTATAGGTGTCTCTTTAGAGAAGTTTGGTGGTGTGGGAAAATAAGCAGAATTCGGTGGATTGTCAGGGTCAAGCAAGGATCTTCTTAGAATACGGGAGGCTTTGAACTTATTTGTTGGGAGAAGAGAATAAGCCAGTGGAGAAGGAGAGATTAAAGTATTAAATAGATAACTGATACAGTGAAATTCTAAAAGGAAGTTGGTGGGAATGGGACCCAAGGTAGAGATTGAGTAACTACTTTTACTTGAGAGCAGGGCCTGTGTTGTATTTATACACTGCTCCCTTTAACCCCCTCAAACCTGGAAGAGTACCTTGATTT...
Task1_train_42228
This mutation is located on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
Benign
AAAAGGATTTAGGGCTTTGCTGGGTAAGAGGTGGGAGTTTCCCAACCCTCTCAATGGGATGGTTTCTGAATAGGTGAGAAAGGAGATGTTCCCCCTTTTAAGTGGAAATAAAGATCCCCCTGCCCCTTTGGTCAAGGTGGGAAGGGGTTGCTAAGTCTGGAAATAGGAAATAGACATGATTATCTTAGGACTGGGTACTGCTTGGAAATGGAAACATGGCATATATACTTGTATGTATTTATCTAACTATCTATCTAGATTCTTCTACTCAACACATCCTATTCCCCCCCTTCTACCCTTTTAATTTCTAATCAGGACAT...
AAAAGGATTTAGGGCTTTGCTGGGTAAGAGGTGGGAGTTTCCCAACCCTCTCAATGGGATGGTTTCTGAATAGGTGAGAAAGGAGATGTTCCCCCTTTTAAGTGGAAATAAAGATCCCCCTGCCCCTTTGGTCAAGGTGGGAAGGGGTTGCTAAGTCTGGAAATAGGAAATAGACATGATTATCTTAGGACTGGGTACTGCTTGGAAATGGAAACATGGCATATATACTTGTATGTATTTATCTAACTATCTATCTAGATTCTTCTACTCAACACATCCTATTCCCCCCCTTCTACCCTTTTAATTTCTAATCAGGACAT...
Task1_train_42229
This is a variant located on Chromosome 12. Is this mutation a likely cause of disease or not?
Benign
CTCCTCAGGCTCCTCCTTGCCCCCACCTTGCCCCAGGAAAGGCCAAAGTCCAGGTGACTGCCCTCCTTCTTTCTTGTAAATACCAACCATGCATTTGTACAGTGGGCCCTGTTCATGCGAAATCCACATCCATGGTCTCCTAGACCTGCTACCCTGGTACTTCCACCCTACCCCACCCCGAGAAGGGCAGAGACGCATGTGACTCACCCCTGCCCTTGGTTTCCCAGACCCCTGCTATAGCCAGAGAACAATAAAGAAGGGAGACCAGGCCTGACTGTGTGTGTTCACTGGGTACAAGTTGACCAAGCATCTTCACATAC...
CTCCTCAGGCTCCTCCTTGCCCCCACCTTGCCCCAGGAAAGGCCAAAGTCCAGGTGACTGCCCTCCTTCTTTCTTGTAAATACCAACCATGCATTTGTACAGTGGGCCCTGTTCATGCGAAATCCACATCCATGGTCTCCTAGACCTGCTACCCTGGTACTTCCACCCTACCCCACCCCGAGAAGGGCAGAGACGCATGTGACTCACCCCTGCCCTTGGTTTCCCAGACCCCTGCTATAGCCAGAGAACAATAAAGAAGGGAGACCAGGCCTGACTGTGTGTGTTCACTGGGTACAAGTTGACCAAGCATCTTCACATAC...
Task1_train_42230
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
ACATACGTATGTCATTTTCTATTCCCAAGAAAACTTTGAGGACTCTTATTTCCACTTTATATATGAGAATACAGTAGCATAGAGAGAGAGCATAAGTAACTTGTCCAAGATCCCATTTAGAAAGTGAGAGAAGCAGAACTGGAGCCTAGATTTATTTAAACCTAAAACCCATACTAACCACTGCAGTATTGGATGGATAGTTTTTATATTTTTCTCTGTTTCTGCATGATCATTATCATTCAACTTTTATCTATAGTAAATATGTATTAACTGCCATTTACCAGACACATAACGTTATGCTGACAATATATGGAGAACAA...
ACATACGTATGTCATTTTCTATTCCCAAGAAAACTTTGAGGACTCTTATTTCCACTTTATATATGAGAATACAGTAGCATAGAGAGAGAGCATAAGTAACTTGTCCAAGATCCCATTTAGAAAGTGAGAGAAGCAGAACTGGAGCCTAGATTTATTTAAACCTAAAACCCATACTAACCACTGCAGTATTGGATGGATAGTTTTTATATTTTTCTCTGTTTCTGCATGATCATTATCATTCAACTTTTATCTATAGTAAATATGTATTAACTGCCATTTACCAGACACATAACGTTATGCTGACAATATATGGAGAACAA...
Task1_train_42231
A mutation found on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
AACCACTGCAGTATTGGATGGATAGTTTTTATATTTTTCTCTGTTTCTGCATGATCATTATCATTCAACTTTTATCTATAGTAAATATGTATTAACTGCCATTTACCAGACACATAACGTTATGCTGACAATATATGGAGAACAAATTGAATTTTGTCTTAAGTTATTGTCAAGTGAAGAATAATTAATATGTAACCTCAATATTAAAATATGGTGGCAGTTGGTCTCTTCAAATTATCTTTGGATGAGATGTTTTGACCCAGGTTGAAGAATTAGAGATTTTATTTGGAAATATGAAATTTTAACTACACTCTAAAGTA...
AACCACTGCAGTATTGGATGGATAGTTTTTATATTTTTCTCTGTTTCTGCATGATCATTATCATTCAACTTTTATCTATAGTAAATATGTATTAACTGCCATTTACCAGACACATAACGTTATGCTGACAATATATGGAGAACAAATTGAATTTTGTCTTAAGTTATTGTCAAGTGAAGAATAATTAATATGTAACCTCAATATTAAAATATGGTGGCAGTTGGTCTCTTCAAATTATCTTTGGATGAGATGTTTTGACCCAGGTTGAAGAATTAGAGATTTTATTTGGAAATATGAAATTTTAACTACACTCTAAAGTA...
Task1_train_42232
This sequence change occurs on Chromosome 12. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
CTAAAGTACAAGCAGAAGTAAGGTAGGGGAACAGGAAGGGTCCTTTATTTAAAGTTGATATAGTACAGTGATTAATCATTAATGATGATTAAAAGCATGGATTCTGGAGCCAGTTTTCCTGGCTTCAAATCTTGATTCTGACTCAAGTAAGTGAATTTCAGCAGACTTCATTTCTCTGTACCTCAATTTACTCATCTGTAAACTTGGGAATATAATAATAACCACCTAATGTTATTATTGAATGGATTAAATGAGCTACTATGAAAGCATTTAGAAAAGTGTCTGGCACATAAAAAGTGCCATATACATATTTGTTATTA...
CTAAAGTACAAGCAGAAGTAAGGTAGGGGAACAGGAAGGGTCCTTTATTTAAAGTTGATATAGTACAGTGATTAATCATTAATGATGATTAAAAGCATGGATTCTGGAGCCAGTTTTCCTGGCTTCAAATCTTGATTCTGACTCAAGTAAGTGAATTTCAGCAGACTTCATTTCTCTGTACCTCAATTTACTCATCTGTAAACTTGGGAATATAATAATAACCACCTAATGTTATTATTGAATGGATTAAATGAGCTACTATGAAAGCATTTAGAAAAGTGTCTGGCACATAAAAAGTGCCATATACATATTTGTTATTA...
Task1_train_42233
A genetic alteration is present on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
ATGCCTAGTTTTGATGAAATATTCTTTGCAACATACAATTGAATCTCAGGAATGCATTTTATTAAATGAATGCATTTTCCCTTCTGTAATTATAATTGCATATGCCTCTAGTATTCATAGTCTTTGTAAACATTGTGAAATATAATACTGAAAAAATAATTTTTTTCCTGAACTTGAAAAAATTTTTCCCTATATGTAGTCATGTTGCATTCAATGTTATTTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGT...
ATGCCTAGTTTTGATGAAATATTCTTTGCAACATACAATTGAATCTCAGGAATGCATTTTATTAAATGAATGCATTTTCCCTTCTGTAATTATAATTGCATATGCCTCTAGTATTCATAGTCTTTGTAAACATTGTGAAATATAATACTGAAAAAATAATTTTTTTCCTGAACTTGAAAAAATTTTTCCCTATATGTAGTCATGTTGCATTCAATGTTATTTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGT...
Task1_train_42234
A sequence alteration has been identified on Chromosome 12. Is it disease-inducing or harmless?
Benign
AAAAATTTTTCCCTATATGTAGTCATGTTGCATTCAATGTTATTTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGTGGTTGGAAACATATGACTATTTTACTATCACCCAGCAAGCATTTTATTGTGGTATTCAGTAGAAAATTAATGCTGTCAAGTAGGTTATAATAGTTTTTTCATTGCTGTTTTGCTTGTTATTTTTATATTTTATAATTTAAATTTAGGCTGGACAGTGTCCATATAAATTACTTTCTG...
AAAAATTTTTCCCTATATGTAGTCATGTTGCATTCAATGTTATTTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGTGGTTGGAAACATATGACTATTTTACTATCACCCAGCAAGCATTTTATTGTGGTATTCAGTAGAAAATTAATGCTGTCAAGTAGGTTATAATAGTTTTTTCATTGCTGTTTTGCTTGTTATTTTTATATTTTATAATTTAAATTTAGGCTGGACAGTGTCCATATAAATTACTTTCTG...
Task1_train_42235
This variant is located on Chromosome 12. Evaluate its biological effect and specify any disease association.
Benign
TTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGTGGTTGGAAACATATGACTATTTTACTATCACCCAGCAAGCATTTTATTGTGGTATTCAGTAGAAAATTAATGCTGTCAAGTAGGTTATAATAGTTTTTTCATTGCTGTTTTGCTTGTTATTTTTATATTTTATAATTTAAATTTAGGCTGGACAGTGTCCATATAAATTACTTTCTGACTGCATTCTCTGGCTTATAACTCATCTTTTGTTGATTGAGGT...
TTAAACATTTCATGTAAAATCTACTTTTCATATCCCAAAGGAATCTATCTTACCTATAACTTGCCAAAACAGCTGCAGTTGCCTTTGGGACTATACTGGTGGTTGGAAACATATGACTATTTTACTATCACCCAGCAAGCATTTTATTGTGGTATTCAGTAGAAAATTAATGCTGTCAAGTAGGTTATAATAGTTTTTTCATTGCTGTTTTGCTTGTTATTTTTATATTTTATAATTTAAATTTAGGCTGGACAGTGTCCATATAAATTACTTTCTGACTGCATTCTCTGGCTTATAACTCATCTTTTGTTGATTGAGGT...
Task1_train_42236
Here is a variant on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
Benign
AGAAAGAATTAAAAATTGCTATTTCAAAGTATGAATACACAATTAAGCAAATCTTGGAGAATACTTATCTATCATCTCTTTAACTGAGGGCATCCTTCTCAAATTAATAATATTTTATTATTTACTTATTTATTTCAATTATAAAGCAAAATGGTTTCTACAGGAATAAAAGTTATAAAATGACACATAGGTAGGCTGAAATATCATGAAATATCATGAAATATTGATTCACATGCAATAAACTTCAGTTTTGGGCTCTTCCAGCTTACATTATTCTATACTTCTTCCTCTTCTGTATTCCAAACATCTGAAGTTGTTCA...
AGAAAGAATTAAAAATTGCTATTTCAAAGTATGAATACACAATTAAGCAAATCTTGGAGAATACTTATCTATCATCTCTTTAACTGAGGGCATCCTTCTCAAATTAATAATATTTTATTATTTACTTATTTATTTCAATTATAAAGCAAAATGGTTTCTACAGGAATAAAAGTTATAAAATGACACATAGGTAGGCTGAAATATCATGAAATATCATGAAATATTGATTCACATGCAATAAACTTCAGTTTTGGGCTCTTCCAGCTTACATTATTCTATACTTCTTCCTCTTCTGTATTCCAAACATCTGAAGTTGTTCA...
Task1_train_42237
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TAATAATATTTTATTATTTACTTATTTATTTCAATTATAAAGCAAAATGGTTTCTACAGGAATAAAAGTTATAAAATGACACATAGGTAGGCTGAAATATCATGAAATATCATGAAATATTGATTCACATGCAATAAACTTCAGTTTTGGGCTCTTCCAGCTTACATTATTCTATACTTCTTCCTCTTCTGTATTCCAAACATCTGAAGTTGTTCATGGTAATGGCTTAAGTATTTCTGATTTTCAATAAAGTGGACGTAGGAGTTGGAAAATCTGAATATTCACAAAAGTTGATCGATGGCATTAAGGTTAAATAAAAT...
TAATAATATTTTATTATTTACTTATTTATTTCAATTATAAAGCAAAATGGTTTCTACAGGAATAAAAGTTATAAAATGACACATAGGTAGGCTGAAATATCATGAAATATCATGAAATATTGATTCACATGCAATAAACTTCAGTTTTGGGCTCTTCCAGCTTACATTATTCTATACTTCTTCCTCTTCTGTATTCCAAACATCTGAAGTTGTTCATGGTAATGGCTTAAGTATTTCTGATTTTCAATAAAGTGGACGTAGGAGTTGGAAAATCTGAATATTCACAAAAGTTGATCGATGGCATTAAGGTTAAATAAAAT...
Task1_train_42238
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
TCAATAAAGTGGACGTAGGAGTTGGAAAATCTGAATATTCACAAAAGTTGATCGATGGCATTAAGGTTAAATAAAATACAGAGACAAATCTCTAAAATTTAAAACATCTTAGGTGGTAACCAAAAACTTCAATTCAAGGAATACACACAGACCAGGTGGTTTTTCAGTATGTCCAAAGAACGAAGAGAAGGTTAGAATCTGCATAAAAAAGAGAAATGTTATTTATTGCTCTTCAAGAAAGTTCATTGACACTGGAAAGGTTTAGGGGAGCTGCCAAGTTTTGATTGGTAAGTTAAGGCAATGAGTAAAACTACCCATAG...
TCAATAAAGTGGACGTAGGAGTTGGAAAATCTGAATATTCACAAAAGTTGATCGATGGCATTAAGGTTAAATAAAATACAGAGACAAATCTCTAAAATTTAAAACATCTTAGGTGGTAACCAAAAACTTCAATTCAAGGAATACACACAGACCAGGTGGTTTTTCAGTATGTCCAAAGAACGAAGAGAAGGTTAGAATCTGCATAAAAAAGAGAAATGTTATTTATTGCTCTTCAAGAAAGTTCATTGACACTGGAAAGGTTTAGGGGAGCTGCCAAGTTTTGATTGGTAAGTTAAGGCAATGAGTAAAACTACCCATAG...
Task1_train_42239
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
TAGCTATTTTTATTACTTATGAAATATTAAGTATGCATAATATATTAATTGCAGTTAATGGAAGTAAATATTCCACAGAAGACAATATTTGAGGTCCTCTGTGGGCTAAAAGATGAACCTAACTGCTCTCAAGGGAGATCGACTACAGATAAGAGTTAGGAGGCTACTGAGAAATCCAAAGGCGACTTCCAGAAATCTTTCATGGTCTATAATACAGCAGAGATGTGGCCTGGACTTTGCTTTGTTCCCAGGAGATCAAATCTTTTGAGGTCAAAACAAAGAAACTTGAAATATTGTAGATATAAGTATGACCAGGGGGA...
TAGCTATTTTTATTACTTATGAAATATTAAGTATGCATAATATATTAATTGCAGTTAATGGAAGTAAATATTCCACAGAAGACAATATTTGAGGTCCTCTGTGGGCTAAAAGATGAACCTAACTGCTCTCAAGGGAGATCGACTACAGATAAGAGTTAGGAGGCTACTGAGAAATCCAAAGGCGACTTCCAGAAATCTTTCATGGTCTATAATACAGCAGAGATGTGGCCTGGACTTTGCTTTGTTCCCAGGAGATCAAATCTTTTGAGGTCAAAACAAAGAAACTTGAAATATTGTAGATATAAGTATGACCAGGGGGA...
Task1_train_42240
Here is a mutation located on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CTTCAGGAAGGAGTTAGACAGCATTTTCTTAGATAAACCTCAGCTGGTATGACTTATTGCAGGGATGCCAGACCCAGGATGCATGACCCCATTTCAATGTCATCTTTACCCTTCCTAATATCTCACACTTTGACTCTGTTCATTAAATCAGATTACTCTCATGGGTCACTCAAAATTTGTCAAGATGGTTTCTCTGTTTCTAGTACTGGTAGCAACAGATCATGCTGAGCAATTCATATTCGGGATGTTGATTATGTACTTCACTAAAATTCCTGTTTTGTTGGCATAGACCACTACAGGTACCTGTATCAATCAAAATG...
CTTCAGGAAGGAGTTAGACAGCATTTTCTTAGATAAACCTCAGCTGGTATGACTTATTGCAGGGATGCCAGACCCAGGATGCATGACCCCATTTCAATGTCATCTTTACCCTTCCTAATATCTCACACTTTGACTCTGTTCATTAAATCAGATTACTCTCATGGGTCACTCAAAATTTGTCAAGATGGTTTCTCTGTTTCTAGTACTGGTAGCAACAGATCATGCTGAGCAATTCATATTCGGGATGTTGATTATGTACTTCACTAAAATTCCTGTTTTGTTGGCATAGACCACTACAGGTACCTGTATCAATCAAAATG...
Task1_train_42241
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GATATAGAAAGAATATCAGTATTAGACATGAAGCCCATTGAAAGAATTATTGAACTTTAAAACAAAAATACTATAGCAATTACAGGCAGGATTAAAAACCTAAATGTGCCCTTAGCTTCAACAGTAATGAAGTCTTTGCAGATTCTTCAGGGGGTGGAGGTGAAAGTGAGGACACAGAGGGTTAAAGCATAAATTGAGTAGGGGTGAGATGAGGAGACGTTAATGTCTTTTTAAATTTTTTTTAATTTTATGCGTACATAGCAAATGTATGTATTTATAGGCCACATGAAATATTTAGATACAGGGAGGTAATATTAAAT...
GATATAGAAAGAATATCAGTATTAGACATGAAGCCCATTGAAAGAATTATTGAACTTTAAAACAAAAATACTATAGCAATTACAGGCAGGATTAAAAACCTAAATGTGCCCTTAGCTTCAACAGTAATGAAGTCTTTGCAGATTCTTCAGGGGGTGGAGGTGAAAGTGAGGACACAGAGGGTTAAAGCATAAATTGAGTAGGGGTGAGATGAGGAGACGTTAATGTCTTTTTAAATTTTTTTTAATTTTATGCGTACATAGCAAATGTATGTATTTATAGGCCACATGAAATATTTAGATACAGGGAGGTAATATTAAAT...
Task1_train_42242
Located on Chromosome 12, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GAATCCACTTCTTGGAAGGAGTTTCAAAATTGTATTGTAAGAGCATGTTGGAAGAGAGATACAGTTGCTTTACATTTCCTTAAGATAACACAGTCTACCAAAGAGGTGAAAGTGGTGAACAGAACATGTCACTTTATTTCTCATTCGATGAGCTTATACAGATAATGAAACATGAGAAGCTTCTGCAGCACACTGCCATATGCATTTAGCTTTTCCAGTTTTTCTGGACAAAGTGACGCAGTAATCATTGTCTTGATATTTGAGGGAAAAAATCTGTCTTTTTGACTTTGCATACATCTTTGTAAATAAACTTATCTTCT...
GAATCCACTTCTTGGAAGGAGTTTCAAAATTGTATTGTAAGAGCATGTTGGAAGAGAGATACAGTTGCTTTACATTTCCTTAAGATAACACAGTCTACCAAAGAGGTGAAAGTGGTGAACAGAACATGTCACTTTATTTCTCATTCGATGAGCTTATACAGATAATGAAACATGAGAAGCTTCTGCAGCACACTGCCATATGCATTTAGCTTTTCCAGTTTTTCTGGACAAAGTGACGCAGTAATCATTGTCTTGATATTTGAGGGAAAAAATCTGTCTTTTTGACTTTGCATACATCTTTGTAAATAAACTTATCTTCT...
Task1_train_42243
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
ACAGATAATGAAACATGAGAAGCTTCTGCAGCACACTGCCATATGCATTTAGCTTTTCCAGTTTTTCTGGACAAAGTGACGCAGTAATCATTGTCTTGATATTTGAGGGAAAAAATCTGTCTTTTTGACTTTGCATACATCTTTGTAAATAAACTTATCTTCTTGTAATTTACTGTGAAGATGAGTCCACCAGGAATCTTGTAATAAATTTTGTCTTTTTATGTTTATTTTTCTCATTGCCATTAAAATTAACTGTCAAATATTTTCAGAAATATTGACTAGGTAAATTCATGGTAACTATAGATATACATAGAAACAAA...
ACAGATAATGAAACATGAGAAGCTTCTGCAGCACACTGCCATATGCATTTAGCTTTTCCAGTTTTTCTGGACAAAGTGACGCAGTAATCATTGTCTTGATATTTGAGGGAAAAAATCTGTCTTTTTGACTTTGCATACATCTTTGTAAATAAACTTATCTTCTTGTAATTTACTGTGAAGATGAGTCCACCAGGAATCTTGTAATAAATTTTGTCTTTTTATGTTTATTTTTCTCATTGCCATTAAAATTAACTGTCAAATATTTTCAGAAATATTGACTAGGTAAATTCATGGTAACTATAGATATACATAGAAACAAA...
Task1_train_42244
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
AAAAACACTGATTGTTTAAAGCTCTTGTAGTAGATGCATTAGGGCTTTTTGAGGGAAATATTCTAAAACCATAAGAAAATGCCTTATTTTATATCTCTCTTGCATTTAATAAAGGTAAGAAAATTTGAAGCTCTTAAGACATTACTTACAAATTAGAAACCTGTGAATATCTAACAATATGATTGAGAATACACAACAGCAACTTCTACCTAGCTATTGAACTTAGCCCAGAATAACAGAGTCCCTAGTCTTCAGTCTTATTATTTCACTGAAAGAAATATTGAGGAAACATTGAGGGATCAATATACTAAAAGAAATAA...
AAAAACACTGATTGTTTAAAGCTCTTGTAGTAGATGCATTAGGGCTTTTTGAGGGAAATATTCTAAAACCATAAGAAAATGCCTTATTTTATATCTCTCTTGCATTTAATAAAGGTAAGAAAATTTGAAGCTCTTAAGACATTACTTACAAATTAGAAACCTGTGAATATCTAACAATATGATTGAGAATACACAACAGCAACTTCTACCTAGCTATTGAACTTAGCCCAGAATAACAGAGTCCCTAGTCTTCAGTCTTATTATTTCACTGAAAGAAATATTGAGGAAACATTGAGGGATCAATATACTAAAAGAAATAA...
Task1_train_42245
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
TTCACAGGTTGTCCTAAGGATTATATTAATTATATATGTAATATACTTAAAAGAGAAGCATAGCAAGAGATTTGCCTGAAGCATAGCAAGAGATTTGTGTTTGTCATATTATGATTATACTGGGTTAAGTCACAGGAAGTTAACTGATTAAGCACTTTTAAAAATCTGGTGAGGTGAAAAATAAGAGAGTAACAGATTGAGAAACGAATGCGTACTGTGGAAATAGAGTCAAAGAATGTAGATCTGAAGGAAATGAAAAAGGAGAGAATATTGTGTCATGGCGAGGATATTCAGCAATTTTTGTCTTGACTTTTATCCAT...
TTCACAGGTTGTCCTAAGGATTATATTAATTATATATGTAATATACTTAAAAGAGAAGCATAGCAAGAGATTTGCCTGAAGCATAGCAAGAGATTTGTGTTTGTCATATTATGATTATACTGGGTTAAGTCACAGGAAGTTAACTGATTAAGCACTTTTAAAAATCTGGTGAGGTGAAAAATAAGAGAGTAACAGATTGAGAAACGAATGCGTACTGTGGAAATAGAGTCAAAGAATGTAGATCTGAAGGAAATGAAAAAGGAGAGAATATTGTGTCATGGCGAGGATATTCAGCAATTTTTGTCTTGACTTTTATCCAT...
Task1_train_42246
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GAAGTGAGTCATGATCATGCTAATGCACTCCAGCCTGGGTGTCAGAGTAAGACTGTGGCTCAAAATACATATATATATATATATTATACCTTATGTGGTAAGGAACGCTCTATAAAACTTTTAAGTGAGATCTATATGTGTTTATTAAAATATATATAATTTAGAATGAATTTTAATCAAGAATGCTTTAAAGCTGCTGCCTTATAAACATTTATAAAAACATAACTAGAAAGAAATCTTGAATAAATCAATAAGGGCACTCCCAGATAATGTGACTCTTTAACTGCATGGGCTCACAAATAAAGTAGAAACTTGAAATG...
GAAGTGAGTCATGATCATGCTAATGCACTCCAGCCTGGGTGTCAGAGTAAGACTGTGGCTCAAAATACATATATATATATATATTATACCTTATGTGGTAAGGAACGCTCTATAAAACTTTTAAGTGAGATCTATATGTGTTTATTAAAATATATATAATTTAGAATGAATTTTAATCAAGAATGCTTTAAAGCTGCTGCCTTATAAACATTTATAAAAACATAACTAGAAAGAAATCTTGAATAAATCAATAAGGGCACTCCCAGATAATGTGACTCTTTAACTGCATGGGCTCACAAATAAAGTAGAAACTTGAAATG...
Task1_train_42247
A mutation located on Chromosome 12 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TTTTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTTCTGAGTTCACGTCATTCTACTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTTGGTTTTTTTTTTTTTCTTTTTTTTTTTT...
TTTTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTTCTGAGTTCACGTCATTCTACTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTTGGTTTTTTTTTTTTTCTTTTTTTTTTTT...
Task1_train_42248
Given this context: Chromosome 12 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CTGGTGATTAACCTCCAAGGCAGTTGATAACTTGGTGGTTAAGATCACAGGCTCTGGGGTTAGGCAGACCTGGATTTGAACCCAAACTCTGTCACTTACAAAATGTGTGACATTGAGAAAGTTACTTAACACTGTCTGGGCTTCCCTCTCCTTATCTGTAAAATGGAGAAAATGAAGGTTTCTATGTCGTAGTGTAATTAGGAAGATCCAATGATTTAATGAATGTTTAGCCCTTAGCATGGTGCCTGGCAGGAACCAAGCACTTGGGAAACATTAGCAGCTGCTAAAATAGGTAACTGCCTCCCCACCTCCCCACCACG...
CTGGTGATTAACCTCCAAGGCAGTTGATAACTTGGTGGTTAAGATCACAGGCTCTGGGGTTAGGCAGACCTGGATTTGAACCCAAACTCTGTCACTTACAAAATGTGTGACATTGAGAAAGTTACTTAACACTGTCTGGGCTTCCCTCTCCTTATCTGTAAAATGGAGAAAATGAAGGTTTCTATGTCGTAGTGTAATTAGGAAGATCCAATGATTTAATGAATGTTTAGCCCTTAGCATGGTGCCTGGCAGGAACCAAGCACTTGGGAAACATTAGCAGCTGCTAAAATAGGTAACTGCCTCCCCACCTCCCCACCACG...
Task1_train_42249
This mutation on Chromosome 12 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
CTAAATCCACAGAGATGGAAGGAACAAGGGCTGAAGAGAAGGCCCTCAGGAAACACAATTTCAACAAATACTCAGGATCCTAGACCCCACCAGGCACCATTCTCTCCACCCACCAAATCCGGGAAACCCTGGAAGTGTCCCTGGAAGGTGTGAGGAGAGGCCCCAGCCAAGCAAAGGCAGAGTTCTAGGGAGAGACATTAACCCCCCGCCCCATGTTCCCATCCCCCAGCTGAGGCCCACAGCAGAGAAGCTTCCCTGGACTCTCATGGCCTACCACACCAGCAGGTGAGACAGCCAGACAGAATGACCAGGAAATGGTC...
CTAAATCCACAGAGATGGAAGGAACAAGGGCTGAAGAGAAGGCCCTCAGGAAACACAATTTCAACAAATACTCAGGATCCTAGACCCCACCAGGCACCATTCTCTCCACCCACCAAATCCGGGAAACCCTGGAAGTGTCCCTGGAAGGTGTGAGGAGAGGCCCCAGCCAAGCAAAGGCAGAGTTCTAGGGAGAGACATTAACCCCCCGCCCCATGTTCCCATCCCCCAGCTGAGGCCCACAGCAGAGAAGCTTCCCTGGACTCTCATGGCCTACCACACCAGCAGGTGAGACAGCCAGACAGAATGACCAGGAAATGGTC...
Task1_train_42250
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
AGAGCATGTGAGGAAAGAACAAGTCACCTCTGTCCTCAGGTGATAGCTTTTGGTCTCCTCCGGTCCACCTATTCAGAAACTTCTCATCTCCCTCCCTTTTATAGTTTCTTTAAGATTAGGCCCTCCTCAAGTAAGACACTGTAACTAGCCTCCTTACCCTTAAAGAAGTGAATCCATTGTGTTCGAGGCGAGTAGACAGCAGCATCCAGGTTTCCGGGGAGCCCCTCCCAAAGGGCAGACACTCGGAACAAGGGGCCCGGTCCTGAATCTGATACAGTCCACACATAGTCCCCCTTGAAAGCATAGGTCTTCCCACGGGG...
AGAGCATGTGAGGAAAGAACAAGTCACCTCTGTCCTCAGGTGATAGCTTTTGGTCTCCTCCGGTCCACCTATTCAGAAACTTCTCATCTCCCTCCCTTTTATAGTTTCTTTAAGATTAGGCCCTCCTCAAGTAAGACACTGTAACTAGCCTCCTTACCCTTAAAGAAGTGAATCCATTGTGTTCGAGGCGAGTAGACAGCAGCATCCAGGTTTCCGGGGAGCCCCTCCCAAAGGGCAGACACTCGGAACAAGGGGCCCGGTCCTGAATCTGATACAGTCCACACATAGTCCCCCTTGAAAGCATAGGTCTTCCCACGGGG...
Task1_train_42251
A mutation on Chromosome 12 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
CCTCTGACTGTCAGGTGGACACTCTGGCATCCTATTCCCATGTAACCATATTTGGATTAATAGCCCCAAATTATGAATCCCCAGCTTTACACAATCATGTGTACAACCAATATTCAGCACCCACTACATACTGGGAAGGGTATCCCAGGCAGACAGAACAGTAAGACTCATTGCTTTGAGCAGGGGAGAGCTTGGCATGCCTGAGGAACAGAAAGGAGCACAGTGAGACCAGATGGCGGGGTGTGAGGAGAGAGTGGAACAAGAGGAGGGCAGAGGGACAAACAGAGGCACTACCACATGGCCTTGGGCTGGAGCCTTGG...
CCTCTGACTGTCAGGTGGACACTCTGGCATCCTATTCCCATGTAACCATATTTGGATTAATAGCCCCAAATTATGAATCCCCAGCTTTACACAATCATGTGTACAACCAATATTCAGCACCCACTACATACTGGGAAGGGTATCCCAGGCAGACAGAACAGTAAGACTCATTGCTTTGAGCAGGGGAGAGCTTGGCATGCCTGAGGAACAGAAAGGAGCACAGTGAGACCAGATGGCGGGGTGTGAGGAGAGAGTGGAACAAGAGGAGGGCAGAGGGACAAACAGAGGCACTACCACATGGCCTTGGGCTGGAGCCTTGG...
Task1_train_42252
A mutation on Chromosome 12 has been found. Is it harmful or harmless? What disease, if any, does it cause?
Benign
GGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCTCGGCCTGACTGCAGCCATTTTCTGACTTCCCTCTGTACTCCTCTTATGGCTCTATTCCTTTTTTTTTTATGGAGTCTCGCTCTGTTGCCCATACTGGAGTGCAGTAGCGTGACCTTGGCTCACCGTGACCTCCACGTTCCAGGTTTAAGTTCTTCTGTCTCAGCCTCCCAGATAGCTGGGACTTTAGGCGTGCACCACCACGCCCAGCTAATTTTTTTTTGTCTTTTTAGTAGAG...
GGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCTCGGCCTGACTGCAGCCATTTTCTGACTTCCCTCTGTACTCCTCTTATGGCTCTATTCCTTTTTTTTTTATGGAGTCTCGCTCTGTTGCCCATACTGGAGTGCAGTAGCGTGACCTTGGCTCACCGTGACCTCCACGTTCCAGGTTTAAGTTCTTCTGTCTCAGCCTCCCAGATAGCTGGGACTTTAGGCGTGCACCACCACGCCCAGCTAATTTTTTTTTGTCTTTTTAGTAGAG...
Task1_train_42253
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
AAACAAAAGAAAGACTAGTAAAGGAAAAAGATAGGAGAAACTTCAGTGGGCCGGGGTCGGGGCTGACCCTCCACTCTGAACACACCTGATTGCGCAGCCTGGTGCGGGGATTGGGCGCATAGCCAATGAAGCCCACCTTCTTCATGGTGCGCAGAATCTCTGCATCCACGGGTGGTGCTCGCCTACAATCCAGCATAGTTCTAGGACTTAAAGAGTTGTGGTGTACACTGGTCCACTCCCCAATCCCCAAGGGTCCAGAGAAAAAGAAAATACTGAAGGTAGACAAAAATCAGGAAAGTAGTAGAATAACAACAGGGCTA...
AAACAAAAGAAAGACTAGTAAAGGAAAAAGATAGGAGAAACTTCAGTGGGCCGGGGTCGGGGCTGACCCTCCACTCTGAACACACCTGATTGCGCAGCCTGGTGCGGGGATTGGGCGCATAGCCAATGAAGCCCACCTTCTTCATGGTGCGCAGAATCTCTGCATCCACGGGTGGTGCTCGCCTACAATCCAGCATAGTTCTAGGACTTAAAGAGTTGTGGTGTACACTGGTCCACTCCCCAATCCCCAAGGGTCCAGAGAAAAAGAAAATACTGAAGGTAGACAAAAATCAGGAAAGTAGTAGAATAACAACAGGGCTA...
Task1_train_42254
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
AGTGAGATCACACAGATGAACAGCACTTTTTTTTTTTTCTGGGAGACAGGGTGTCATTCTGTCACCCAGGCTGGAGAATAGTGGCATGATCACAGCTCACTGCCACCTCGACCTCCCGGGCTCAAGCAATCTTCCCACCTCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTAACTTTTGTATTTTTCGTAGAGACGGGGTTTCACCACGTGGCCCAGGGTAGTTTTGAACTCCTGGGCTCAAGTGATCTGTACTCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCAACCACGC...
AGTGAGATCACACAGATGAACAGCACTTTTTTTTTTTTCTGGGAGACAGGGTGTCATTCTGTCACCCAGGCTGGAGAATAGTGGCATGATCACAGCTCACTGCCACCTCGACCTCCCGGGCTCAAGCAATCTTCCCACCTCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTAACTTTTGTATTTTTCGTAGAGACGGGGTTTCACCACGTGGCCCAGGGTAGTTTTGAACTCCTGGGCTCAAGTGATCTGTACTCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCAACCACGC...
Task1_train_42255
Chromosome 12 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
TGATTTTTAAAACTATGTATCTGTATTGCTTTTATGATACCAAAAAAAAGTTAAAAAAATGATCAGGTGGCCAGGCATGATGGCTCATGCCTGTAATCCCAGCACTTTGTGAGGCCCACAAGACGAGAGGATGGCTTGAGCCCAGGAGTTTGAGACCAAGCTTGAGCAACATAGTGAGATTCCATCTCCAAAAAAAAATTAATGATGAGGTCCCAATTCTTGAGGATTTAAGTGTCTGATATTAAAGGAGCAAGTCAGCAAAGATTCAAATATGAAAACAAAACAAAAAACCTGGTCTCCCCAAATGGATTGCAAACACT...
TGATTTTTAAAACTATGTATCTGTATTGCTTTTATGATACCAAAAAAAAGTTAAAAAAATGATCAGGTGGCCAGGCATGATGGCTCATGCCTGTAATCCCAGCACTTTGTGAGGCCCACAAGACGAGAGGATGGCTTGAGCCCAGGAGTTTGAGACCAAGCTTGAGCAACATAGTGAGATTCCATCTCCAAAAAAAAATTAATGATGAGGTCCCAATTCTTGAGGATTTAAGTGTCTGATATTAAAGGAGCAAGTCAGCAAAGATTCAAATATGAAAACAAAACAAAAAACCTGGTCTCCCCAAATGGATTGCAAACACT...
Task1_train_42256
This mutation occurs on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
Benign
AAAATGTATATATATATATTTACAATACAGTATAACAATTATTTACCTAACATTTACATTGTATAGGTATTATATGTAATCTAGAAATGACGAAGTATACAGGTTGTACCTAGGTTATTTACAAATACTACAAAAAGGGACTTCAGCATCTATAGATTTTGGTATCTGTGGGCAGGGGGGTCCTGGAACCAATCCCCTCTCAGACACTAAGGGACAACTGTAATCAAGACTATATTTTAAAAAGATAAATCTGGAGGCAGTCTGGAAGATGGATCTAGGGGAAGGGGAGATTAGAGAGAGGAAAAGAAGACTAGCAGAAT...
AAAATGTATATATATATATTTACAATACAGTATAACAATTATTTACCTAACATTTACATTGTATAGGTATTATATGTAATCTAGAAATGACGAAGTATACAGGTTGTACCTAGGTTATTTACAAATACTACAAAAAGGGACTTCAGCATCTATAGATTTTGGTATCTGTGGGCAGGGGGGTCCTGGAACCAATCCCCTCTCAGACACTAAGGGACAACTGTAATCAAGACTATATTTTAAAAAGATAAATCTGGAGGCAGTCTGGAAGATGGATCTAGGGGAAGGGGAGATTAGAGAGAGGAAAAGAAGACTAGCAGAAT...
Task1_train_42257
Mutation context: Chromosome 12. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
CAGGCTAATTTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCCACTTCAGCCTCCCAAGAAGCTGGGATTACAGGTGCGCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCGTGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCCAAAAT...
CAGGCTAATTTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCCACTTCAGCCTCCCAAGAAGCTGGGATTACAGGTGCGCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCGTGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCCAAAAT...
Task1_train_42258
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GTGCCTGCCTTTGCTCTCTGGGATGGGGAGCTGCTGACCCATTCAGGGCTTGAGGTGCCCGAGGGCCTCTAGTATGTCCATTACTGGAGTCCCTAATCACGCCTTTGGCCAGCCTCCTTTTGAAAGTGTCCGAAGCCTTTTTACTTTGCCTCAAGCAACCTCTAGCTCCCACAATTCAGTGTTGGGTCCTCTGTGCAATATCATGATCATCTTCCTCATCCCCTACCTTGTGAAAGCTAGGCATACAGCCAAACCCTCCTTTTCCCCACCCACCAACTACTGCCAATTTCCTAGGCTACCATGGGTGTATCTTCCTTGAC...
GTGCCTGCCTTTGCTCTCTGGGATGGGGAGCTGCTGACCCATTCAGGGCTTGAGGTGCCCGAGGGCCTCTAGTATGTCCATTACTGGAGTCCCTAATCACGCCTTTGGCCAGCCTCCTTTTGAAAGTGTCCGAAGCCTTTTTACTTTGCCTCAAGCAACCTCTAGCTCCCACAATTCAGTGTTGGGTCCTCTGTGCAATATCATGATCATCTTCCTCATCCCCTACCTTGTGAAAGCTAGGCATACAGCCAAACCCTCCTTTTCCCCACCCACCAACTACTGCCAATTTCCTAGGCTACCATGGGTGTATCTTCCTTGAC...
Task1_train_42259
A variant on Chromosome 12 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
TGAGTAGCTGGGACTACAGGTGCATGCCACCACACCTGGCTAATTTTTTGTATTTTAATAGACAGGGTTTCACCTGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAGGCAATCCACCCACCTCGACCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGCACCCTGCCTCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTGTTATATTGCCCAGGCTGGTCTCAAACTCATGGGTTCAAGCAATTCTCTCACCTCAGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGACCAGTGT...
TGAGTAGCTGGGACTACAGGTGCATGCCACCACACCTGGCTAATTTTTTGTATTTTAATAGACAGGGTTTCACCTGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAGGCAATCCACCCACCTCGACCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGCACCCTGCCTCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTGTTATATTGCCCAGGCTGGTCTCAAACTCATGGGTTCAAGCAATTCTCTCACCTCAGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGACCAGTGT...
Task1_train_42260
This sequence variant lies on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
Benign
GCCACCTTAGTAGCTGGGATTACAGGAGCGTTACCACCATGCCCTGCTATATATTTTTGGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCCTTCCAGTGTGCTGGGATAACAGGTGTGAGCCACCAACCTAGCTACTTCTGTTACTTTCAACGGGATTCTACCACTACTAAGAATTGGGTTCAGTGTATACTGCTTGGGTGACAGGTGCACCAAAATCTCAAAAATCACCACTAGAGAACTTACTTGTATAACCAAAATACCACCTGT...
GCCACCTTAGTAGCTGGGATTACAGGAGCGTTACCACCATGCCCTGCTATATATTTTTGGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCCTTCCAGTGTGCTGGGATAACAGGTGTGAGCCACCAACCTAGCTACTTCTGTTACTTTCAACGGGATTCTACCACTACTAAGAATTGGGTTCAGTGTATACTGCTTGGGTGACAGGTGCACCAAAATCTCAAAAATCACCACTAGAGAACTTACTTGTATAACCAAAATACCACCTGT...
Task1_train_42261
A variant found on Chromosome 12 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
AACTGGAGAAACAGGGGATGAGAGATTTCCAATAGGAGTATCAGGGCCAGCAGAACCCTTCTTGGTTGGAGGTCTTTTAGTCTGAGGAGACACACTAACCCCTAAAGGAGATGGGGAATCAGCTAGGTAAGTCAGAGTTCCTTTGGAAGATGCAGTAGCAGAAGCACCAGAGTCCTCAGTTGGGCACTCTTTGGGAGAGGAAGCAACAGGTGCCAATGCTGAAGTATGAGAAATACCATCAACCTTTTTTGTACCTGGAGGAGTCCCAGCTGGGGGAAGAGAGGGTGAGGGCACAGACTTTGGGATTTCAGGGGCCAGCA...
AACTGGAGAAACAGGGGATGAGAGATTTCCAATAGGAGTATCAGGGCCAGCAGAACCCTTCTTGGTTGGAGGTCTTTTAGTCTGAGGAGACACACTAACCCCTAAAGGAGATGGGGAATCAGCTAGGTAAGTCAGAGTTCCTTTGGAAGATGCAGTAGCAGAAGCACCAGAGTCCTCAGTTGGGCACTCTTTGGGAGAGGAAGCAACAGGTGCCAATGCTGAAGTATGAGAAATACCATCAACCTTTTTTGTACCTGGAGGAGTCCCAGCTGGGGGAAGAGAGGGTGAGGGCACAGACTTTGGGATTTCAGGGGCCAGCA...
Task1_train_42262
A variant was discovered on Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
GGACTCTAGATTCTACAAAGGCAAACTGTTAGGAGGTTTTTACAGTAATTCAGATGAGATGATAATGTTGGTAGCACTGGTAGTAGTGGCTGGATTTTAGATACACTTATGGTAGAGCCAAAGGGATTTCCTAATAGAATGGGTATGGGAATGTGAGAAAGAGAGGAATCAAGAATAACTCCAGGGGTATGAAGGAAAAAGAATATAAATGTTTATTATGACTGAACTGTACACTTAAACGTGGTAAAGATAATAAGTTTTATATGTATATTTGACCTCAATAAAAATAAACAATTAAAAGAAAAAAAGAATAACTTCCA...
GGACTCTAGATTCTACAAAGGCAAACTGTTAGGAGGTTTTTACAGTAATTCAGATGAGATGATAATGTTGGTAGCACTGGTAGTAGTGGCTGGATTTTAGATACACTTATGGTAGAGCCAAAGGGATTTCCTAATAGAATGGGTATGGGAATGTGAGAAAGAGAGGAATCAAGAATAACTCCAGGGGTATGAAGGAAAAAGAATATAAATGTTTATTATGACTGAACTGTACACTTAAACGTGGTAAAGATAATAAGTTTTATATGTATATTTGACCTCAATAAAAATAAACAATTAAAAGAAAAAAAGAATAACTTCCA...
Task1_train_42263
Assess the clinical impact of this variant found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
AAGCATTTGCCACAGGCCCCACCTGAGCTAAGCACTTTCCCTCCCTCAACAGCTCCTTTAATTCTCAAAGCATCCCTTTTAGTAGATAATAGACCCCACTTTGCAGAGGAGAGCACTGAGGCTGAGGAAAGAGGTAAATTCATTCAGCGGGTGAGGGAGGAGCTGGGATTTTAATGCTGGCAGTATGACCTCCCCGCCACTGGCACACCGGGTCTTTTGCTGGGACATCCCCTGTAACCGGATTGGGGGAATGCAGGAAAAACCCCATCCCTCCCTACAGAGCCTCAGCAGTGACAGCTACTTCCCGGATGAGAAGGGCG...
AAGCATTTGCCACAGGCCCCACCTGAGCTAAGCACTTTCCCTCCCTCAACAGCTCCTTTAATTCTCAAAGCATCCCTTTTAGTAGATAATAGACCCCACTTTGCAGAGGAGAGCACTGAGGCTGAGGAAAGAGGTAAATTCATTCAGCGGGTGAGGGAGGAGCTGGGATTTTAATGCTGGCAGTATGACCTCCCCGCCACTGGCACACCGGGTCTTTTGCTGGGACATCCCCTGTAACCGGATTGGGGGAATGCAGGAAAAACCCCATCCCTCCCTACAGAGCCTCAGCAGTGACAGCTACTTCCCGGATGAGAAGGGCG...
Task1_train_42264
This variant is located on Chromosome 12. Evaluate its biological effect and specify any disease association.
Benign
GGGCAGGGCTGATGAACCTCTACATCCTCAACATGGCCATCGCGGACCTGGGCATTGTCCTGTCTCTGCCCGTGTGGATGCTGGAGGTCACGCTGGACTACACCTGGCTCTGGGGCAGCTTCTCCTGCCGCTTCACTCACTACTTCTACTTTGTCAACATGTATAGCAGCATCTTCTTCCTGGTGTGCCTCAGTGTCGACCGCTATGTCACCCTCACCAGCGCCTCCCCCTCCTGGCAGCGTTACCAGCACCGAGTGCGGCGGGCCATGTGTGCAGGCATCTGGGTCCTCTCGGCCATCATCCCGCTGCCTGAGGTGGTC...
GGGCAGGGCTGATGAACCTCTACATCCTCAACATGGCCATCGCGGACCTGGGCATTGTCCTGTCTCTGCCCGTGTGGATGCTGGAGGTCACGCTGGACTACACCTGGCTCTGGGGCAGCTTCTCCTGCCGCTTCACTCACTACTTCTACTTTGTCAACATGTATAGCAGCATCTTCTTCCTGGTGTGCCTCAGTGTCGACCGCTATGTCACCCTCACCAGCGCCTCCCCCTCCTGGCAGCGTTACCAGCACCGAGTGCGGCGGGCCATGTGTGCAGGCATCTGGGTCCTCTCGGCCATCATCCCGCTGCCTGAGGTGGTC...
Task1_train_42265
Here is a mutation located on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
GACACACACACAGCCCTGCCCAAGGTGCCCTACTATGAATGCTCCCCCTGCCTTATCCAGTTCCTCCTCTTCCCAGAAACCTCCCAGAGGAAGCACAGGCCCAGGGATTACTTACAGTTTCACATGAATGAAATCAGATGACACAATGATCTGTGTTGATCCATCTCATCTAATCTTTAAATGCCAGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGT...
GACACACACACAGCCCTGCCCAAGGTGCCCTACTATGAATGCTCCCCCTGCCTTATCCAGTTCCTCCTCTTCCCAGAAACCTCCCAGAGGAAGCACAGGCCCAGGGATTACTTACAGTTTCACATGAATGAAATCAGATGACACAATGATCTGTGTTGATCCATCTCATCTAATCTTTAAATGCCAGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGT...
Task1_train_42266
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
GGAGATGAGATGGAGAGCGGGGGCGATGAGGCGCAGGTCACCACCCCACTCTCGGCCAGATAGGCTCTTCTCGGCCTGATTCTGAGAAGTCAAGGATGGGGGGAGCTGTTGGGGGCGGGAGAAGGCTGGCCAGAGCCTGAGCTACCCCTATTCTGAACAGAGCCACCCTCCTCCCAAACAAGGCAGGCTCTAGCCCCTCACCCGCCTGAAAACAGATGATTCCCCAGGTTCTATCTCAGCTCAAAGCAGGGTGTGCCAGAAGCACGTGGCTTGTGCTCAGACAGCAGATTAATCTGCAGGCAGGAAGAGAAGTTAATCAG...
GGAGATGAGATGGAGAGCGGGGGCGATGAGGCGCAGGTCACCACCCCACTCTCGGCCAGATAGGCTCTTCTCGGCCTGATTCTGAGAAGTCAAGGATGGGGGGAGCTGTTGGGGGCGGGAGAAGGCTGGCCAGAGCCTGAGCTACCCCTATTCTGAACAGAGCCACCCTCCTCCCAAACAAGGCAGGCTCTAGCCCCTCACCCGCCTGAAAACAGATGATTCCCCAGGTTCTATCTCAGCTCAAAGCAGGGTGTGCCAGAAGCACGTGGCTTGTGCTCAGACAGCAGATTAATCTGCAGGCAGGAAGAGAAGTTAATCAG...
Task1_train_42267
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
CATCTTTCAACTGAGAGGGTCCTTCAGTATTTTTCAAGCTGACCTTCCTACTGTTTTTGCAGCCATAAATCCTTCCTCCACTCTGCTCCTAAGTGCAGATCTGACCATGCCATGAGTCTTTGTTTCCAGAGTCTTTATGGTTCCAGTAACACCACAGGATGAAGTCCAACATCCTTAGTATGATCTAAAACTCAGAGGCAAAGACACAAATAACTATAATAATGTTATTCAATGTTTGTCACCAATCTGTAATGAAACAATTTCAGAAATTAAGTGTAAGCATTTAGAAAGTTTTATAGGAATTTGACAGAGAAATTTTA...
CATCTTTCAACTGAGAGGGTCCTTCAGTATTTTTCAAGCTGACCTTCCTACTGTTTTTGCAGCCATAAATCCTTCCTCCACTCTGCTCCTAAGTGCAGATCTGACCATGCCATGAGTCTTTGTTTCCAGAGTCTTTATGGTTCCAGTAACACCACAGGATGAAGTCCAACATCCTTAGTATGATCTAAAACTCAGAGGCAAAGACACAAATAACTATAATAATGTTATTCAATGTTTGTCACCAATCTGTAATGAAACAATTTCAGAAATTAAGTGTAAGCATTTAGAAAGTTTTATAGGAATTTGACAGAGAAATTTTA...
Task1_train_42268
With a mutation on Chromosome 12, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
ACTCCCGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCGGCCTGAAGACATTTTTAAACTAAGCAAGTGTCCATAAAGCATATAAAACCTATAGATGGGGCCAGGTGCTGCCTGCAATCCCAACACTTAGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGTGTCGTGGCGGGCGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGA...
ACTCCCGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCGGCCTGAAGACATTTTTAAACTAAGCAAGTGTCCATAAAGCATATAAAACCTATAGATGGGGCCAGGTGCTGCCTGCAATCCCAACACTTAGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGTGTCGTGGCGGGCGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGA...
Task1_train_42269
A genetic alteration is present on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AAAAAAAAAAAAAATATATATATATATATATATATATATATATAAAATATATGTGTGTGTGCTTGTGTTTGTATATATGTATGCATACATATATACATATATATACACACATGCATACACACATATGTATTTATAAGATGGGGTCTTGCCATGTTGCCTGGGCTGGTCTTGGGCATGTTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCATGCACTACTCCACCCAGCTCTGGGACAAATTGATTTTAATGTGCTGCCAGGACATTCATGTGACAAAAGTAAGTAGTTAGAAATCTAGGCCTGAAGCTTGGTGATTT...
AAAAAAAAAAAAAATATATATATATATATATATATATATATATAAAATATATGTGTGTGTGCTTGTGTTTGTATATATGTATGCATACATATATACATATATATACACACATGCATACACACATATGTATTTATAAGATGGGGTCTTGCCATGTTGCCTGGGCTGGTCTTGGGCATGTTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCATGCACTACTCCACCCAGCTCTGGGACAAATTGATTTTAATGTGCTGCCAGGACATTCATGTGACAAAAGTAAGTAGTTAGAAATCTAGGCCTGAAGCTTGGTGATTT...
Task1_train_42270
A variant on Chromosome 12 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
GAGTGCAGCCAATACAGACAGTGGTGTGGAAATGACTGGCAATGCAGGGGGCAGCACTGAAGACCTCTCCAGCTTGGACGAGGGACCTTGCATTGCTGGCACTGGTCTGTCCACTCTTCGCCGCCTTGAGAACCTCAGGCTGGACCAGCTACATCAACTCCGGCCAATAGGGACCCGGGGTCTCAAACTGCCCAGCTTGTCCCACACCGGTGAGACCTGGGTGTGGGAGGTGTGGCTGGGGTGAGATCTGGACCTGCCCTGAGGTTGAGAGGAGGAAGTCACCCTTGAGGGCTGTCACACAGCACTTTTGTATAATTAGA...
GAGTGCAGCCAATACAGACAGTGGTGTGGAAATGACTGGCAATGCAGGGGGCAGCACTGAAGACCTCTCCAGCTTGGACGAGGGACCTTGCATTGCTGGCACTGGTCTGTCCACTCTTCGCCGCCTTGAGAACCTCAGGCTGGACCAGCTACATCAACTCCGGCCAATAGGGACCCGGGGTCTCAAACTGCCCAGCTTGTCCCACACCGGTGAGACCTGGGTGTGGGAGGTGTGGCTGGGGTGAGATCTGGACCTGCCCTGAGGTTGAGAGGAGGAAGTCACCCTTGAGGGCTGTCACACAGCACTTTTGTATAATTAGA...
Task1_train_42271
The following genetic variant occurs on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
TGCACTCCAACTTGAGCAACAAGAGCGAAACTCTGTTTCAAACAAAACAAAACAAAACAAACAAACAAACAAGTATGCAAAGGCTATGATGCGAATGCTGTTCCCTAGGATTGTGCAGCACACAACCTGCACAACTGTTCATAGCAACCCTGAATCCTTGGTAACCCAGAAACAGAATAGGCATGGGAGAAGTAGGAGACAGAACAGACTGGTTAGGGATAACGAGCTTACCCCTGAGAATCCAGGGCAAGGCTGTTGCATGGAGGAGGCAGGGTGAAATTTAGGAAGCTCCTTGACCATCCTACCTTTTCTCCCCATCA...
TGCACTCCAACTTGAGCAACAAGAGCGAAACTCTGTTTCAAACAAAACAAAACAAAACAAACAAACAAACAAGTATGCAAAGGCTATGATGCGAATGCTGTTCCCTAGGATTGTGCAGCACACAACCTGCACAACTGTTCATAGCAACCCTGAATCCTTGGTAACCCAGAAACAGAATAGGCATGGGAGAAGTAGGAGACAGAACAGACTGGTTAGGGATAACGAGCTTACCCCTGAGAATCCAGGGCAAGGCTGTTGCATGGAGGAGGCAGGGTGAAATTTAGGAAGCTCCTTGACCATCCTACCTTTTCTCCCCATCA...
Task1_train_42272
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
AGGTGCTAGGACAGGATGGGTAAATGCACTGCTCTTTCCCACAGGCATGGAAGACATCATTAATCTAGCACAGCTTTCTTTTTCACATAGCCCAACTATAGCCTCATAATTCTTTTCAATTCAGCCCTCTAAACATTCACAAAAAAGCAACTGGAGTAGGCACCTGAGTTGAACATTATTTTCCATCTCTAAAGTCAGAATGGGAAAGAAGAGTATAAGGGAACCTCTATTCTATTATTTACCACCCGTGTCCCCCACATCAAGGGTTCTTTCCAAAGCTCCAACCCTTACCAAGGGCAGCACGGAAATGGGGCAGCAGC...
AGGTGCTAGGACAGGATGGGTAAATGCACTGCTCTTTCCCACAGGCATGGAAGACATCATTAATCTAGCACAGCTTTCTTTTTCACATAGCCCAACTATAGCCTCATAATTCTTTTCAATTCAGCCCTCTAAACATTCACAAAAAAGCAACTGGAGTAGGCACCTGAGTTGAACATTATTTTCCATCTCTAAAGTCAGAATGGGAAAGAAGAGTATAAGGGAACCTCTATTCTATTATTTACCACCCGTGTCCCCCACATCAAGGGTTCTTTCCAAAGCTCCAACCCTTACCAAGGGCAGCACGGAAATGGGGCAGCAGC...
Task1_train_42273
Given a variant located on Chromosome 12, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TATTTCTTGCAAGAGCTACAACGGTGTCTGAAAGATCCTGATTGGCTGGCTCAGCTATTCATCAAACACGTGAGGCTTGAGGGGGCAGGGCCTGGGGCGGGGCTTAGGAATGGGCTGGGATTCTCTGGAGATGCGTCCTCCCTCCTTGCCCACCCTGCTCTCTCTTAAACATTACCCCTGTTAGGAGCGCCGGCTGCATATGTATGTGGTGTACTGTCAGAATAAGCCCAAGTCAGAGCATGTGGTGTCAGAGTTTGGGGACAGCTACTTTGAGGTCAGTAGCTGAGATGTCTTGGTGGGAAGGAGGACAGAACTGGGGC...
TATTTCTTGCAAGAGCTACAACGGTGTCTGAAAGATCCTGATTGGCTGGCTCAGCTATTCATCAAACACGTGAGGCTTGAGGGGGCAGGGCCTGGGGCGGGGCTTAGGAATGGGCTGGGATTCTCTGGAGATGCGTCCTCCCTCCTTGCCCACCCTGCTCTCTCTTAAACATTACCCCTGTTAGGAGCGCCGGCTGCATATGTATGTGGTGTACTGTCAGAATAAGCCCAAGTCAGAGCATGTGGTGTCAGAGTTTGGGGACAGCTACTTTGAGGTCAGTAGCTGAGATGTCTTGGTGGGAAGGAGGACAGAACTGGGGC...
Task1_train_42274
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
CAACCACCAGCCCTCACCCCAGCCCCAGAGCCACAAGTTCTCTCTGTGGGGGTGGGGCTGGAGCAGGTACACAGAGTACTGGATCTGAAGATGCAGATGAGGGGCACAGTCTTGGGATTATGTGTTGGGGAACTTCCCCACCCCCTCGGTCCCAAGATGAGAGGACAGTGTTTCCACCTTAGGTTCTTAGAGTCCCTCTGGGCTCTTTGGCACTTGGAAAGTGATCCCCCCATTTCCTGCCCCATGAGAATGGGCAGGGGGAGGACTTGGCACTGGCTGTGGGAGAGGTTATGGCTCCACCAGGCCTCTGGGCACTGGAA...
CAACCACCAGCCCTCACCCCAGCCCCAGAGCCACAAGTTCTCTCTGTGGGGGTGGGGCTGGAGCAGGTACACAGAGTACTGGATCTGAAGATGCAGATGAGGGGCACAGTCTTGGGATTATGTGTTGGGGAACTTCCCCACCCCCTCGGTCCCAAGATGAGAGGACAGTGTTTCCACCTTAGGTTCTTAGAGTCCCTCTGGGCTCTTTGGCACTTGGAAAGTGATCCCCCCATTTCCTGCCCCATGAGAATGGGCAGGGGGAGGACTTGGCACTGGCTGTGGGAGAGGTTATGGCTCCACCAGGCCTCTGGGCACTGGAA...
Task1_train_42275
Given this context: Chromosome 12 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TCCACAAGCCTCTCCAGCCGCGTCCGCGCCGTGAAGACGAAGTCGTCGTCCACCCACAGCACGTACTTGGTGGTTACTTGAGACACGGCCAGGTTCCGGCCTGCGAACCAGCCCTGGCAGAAAGGTGTGTGTGGTTGGGGAGGCTGCAGAAATAGGACATGGCCCTCTGCCACCTTTCTTTCTCTCCCCCGACCCTTCTCAGCTTGTATTCTTCTCCAGACTTTTGAGTGCTTTCGAAAGGCCAGGAGCTAGGTAAAAGAAATGCAGATCCCCACAGAGGTTCCAAGTCAGTGGTCTTAGAATGCGTTTAATTTCCGTGT...
TCCACAAGCCTCTCCAGCCGCGTCCGCGCCGTGAAGACGAAGTCGTCGTCCACCCACAGCACGTACTTGGTGGTTACTTGAGACACGGCCAGGTTCCGGCCTGCGAACCAGCCCTGGCAGAAAGGTGTGTGTGGTTGGGGAGGCTGCAGAAATAGGACATGGCCCTCTGCCACCTTTCTTTCTCTCCCCCGACCCTTCTCAGCTTGTATTCTTCTCCAGACTTTTGAGTGCTTTCGAAAGGCCAGGAGCTAGGTAAAAGAAATGCAGATCCCCACAGAGGTTCCAAGTCAGTGGTCTTAGAATGCGTTTAATTTCCGTGT...
Task1_train_42276
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
CCCCTTTCTCCCTCTGGCCCTGCTGGTCCAGTTGAAGCACCCATTGTGTGGCTGGACAGCTCTGGCCATAGCCCAGATGCCTCCCATGCCCTCTGCCATTTGCCCACTCCAGCCTTTCTGGTTCTTCTCTGTTTGCCCAGCCTGCCCGTCTCTCCACCCAGGCCTTGCACCTGTGTCTGCTGTGTTGGTCTGGTAGCTTCGGCTGCTGTAAGTGACCAGTTGTAGTTGCCTGTTGAGTTGGTCCAGCCCTGGGCTGACAAGGGTGAGATCTGCCTGACCCTCTCCAGTGAGAGTAACTCCAGTCACTTCCCCTGCCACGT...
CCCCTTTCTCCCTCTGGCCCTGCTGGTCCAGTTGAAGCACCCATTGTGTGGCTGGACAGCTCTGGCCATAGCCCAGATGCCTCCCATGCCCTCTGCCATTTGCCCACTCCAGCCTTTCTGGTTCTTCTCTGTTTGCCCAGCCTGCCCGTCTCTCCACCCAGGCCTTGCACCTGTGTCTGCTGTGTTGGTCTGGTAGCTTCGGCTGCTGTAAGTGACCAGTTGTAGTTGCCTGTTGAGTTGGTCCAGCCCTGGGCTGACAAGGGTGAGATCTGCCTGACCCTCTCCAGTGAGAGTAACTCCAGTCACTTCCCCTGCCACGT...
Task1_train_42277
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
GTAGAGGGGCCTGGGATGTCTGCCAAGCTCCGGCGTGCTGAGTGGTACTCTCGGTAGCCTAGGGAGGCGCCCAACTCGGGCGCCCAGCGGACGCGATGGAACACTCTGGAGGCGTACTTGAGGGTCTGGGTCATGGTCTGGTTCAGGGTGCTCGCGAAAGAAAGCGCTTCTCCTGAGCATCATATCTCAACCCCTATTTAACCTTTGGGTGAGGTGATGACGCCCCCTCTCCAAGCTCCTCAGCCAATCCCTCCTCCTGAGTGGTCTGTGCTGGGGATTAGCACCCAGGAACAGTAGGCGGGGCTGGGGCTGACTTCACA...
GTAGAGGGGCCTGGGATGTCTGCCAAGCTCCGGCGTGCTGAGTGGTACTCTCGGTAGCCTAGGGAGGCGCCCAACTCGGGCGCCCAGCGGACGCGATGGAACACTCTGGAGGCGTACTTGAGGGTCTGGGTCATGGTCTGGTTCAGGGTGCTCGCGAAAGAAAGCGCTTCTCCTGAGCATCATATCTCAACCCCTATTTAACCTTTGGGTGAGGTGATGACGCCCCCTCTCCAAGCTCCTCAGCCAATCCCTCCTCCTGAGTGGTCTGTGCTGGGGATTAGCACCCAGGAACAGTAGGCGGGGCTGGGGCTGACTTCACA...
Task1_train_42278
A mutation located on Chromosome 12 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
ACATCATTGTGTGCAGAAGAATACTGTACCTAGTACTAAGTTCTTTTCATCTTTGATTTTTCTTTAGCTTCATCAGTCCTTCCTTCCTAATCTCTAATCCCCTGAAGCCTAACACAGTTCCTAATGTGTTTTGCCTTAACCTCTTTTCTCTTCCCACATTGGTACTTCTGGTTGGGGCTCTCTTTACTTACTGCTTAGGCACATAGTCACCTTCTCTGGACTCCCTGCTTCCATGCTTTCTCCTTCAGTCCATTCCGCAAACTCTTGTGATCTTCCAAAATTAGCTCTGATTAGCTTTCACTTCCTGTAGAAGCAAGAAC...
ACATCATTGTGTGCAGAAGAATACTGTACCTAGTACTAAGTTCTTTTCATCTTTGATTTTTCTTTAGCTTCATCAGTCCTTCCTTCCTAATCTCTAATCCCCTGAAGCCTAACACAGTTCCTAATGTGTTTTGCCTTAACCTCTTTTCTCTTCCCACATTGGTACTTCTGGTTGGGGCTCTCTTTACTTACTGCTTAGGCACATAGTCACCTTCTCTGGACTCCCTGCTTCCATGCTTTCTCCTTCAGTCCATTCCGCAAACTCTTGTGATCTTCCAAAATTAGCTCTGATTAGCTTTCACTTCCTGTAGAAGCAAGAAC...
Task1_train_42279
Given a variant located on Chromosome 12, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
TCCCCGCCCCAGCCCAGTGGCCAGAGGACACATCAGGATCCAAAGCTGAAGCCTGTGCCAGGCCTACCTGCCAGATGTACAAGATGTGATGTGGCTTCCCATTTACCTCGTATGTGTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCATTGATACTCCACAGGGACCAGCTCCAGGTTCTCAATTCTCCAGACCTGGGCATAGAAGGAGACACCGTTTTCCAGAGATGGGGGTGCTGAGAGGGGCTAGGCCACACTAAAGAGAGAATCCAGGTGGGAAAGGTGCTGACGTTTACTCCATGTTCCCTTT...
TCCCCGCCCCAGCCCAGTGGCCAGAGGACACATCAGGATCCAAAGCTGAAGCCTGTGCCAGGCCTACCTGCCAGATGTACAAGATGTGATGTGGCTTCCCATTTACCTCGTATGTGTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCATTGATACTCCACAGGGACCAGCTCCAGGTTCTCAATTCTCCAGACCTGGGCATAGAAGGAGACACCGTTTTCCAGAGATGGGGGTGCTGAGAGGGGCTAGGCCACACTAAAGAGAGAATCCAGGTGGGAAAGGTGCTGACGTTTACTCCATGTTCCCTTT...
Task1_train_42280
A mutation on Chromosome 12 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
AAACACCCCATGTTCTCACTTATAAGTGGAAGCTAAAGACTGAGTGCACGTGGACATACAGAGGGGAATAATAGACACTGGGGACTCCAAAAGTGGGGAGAGTGGGAGGGGAAGGGTGAGGGTTGAAAAATTAACTATTGGGTACAATGTTCACTGTTTGGGTGATGGGTACACTAGAAGCCCAGACCTCACCACTACACAATATATCTGTATAATAAACCTACACATAAACCACCTGAATCTATGTATTAAAAAAGAAAGCATGAAAAAAATCCAAATAGTATTTCAAATGTATATAGGCTATGGTCCATTTCTAGGCA...
AAACACCCCATGTTCTCACTTATAAGTGGAAGCTAAAGACTGAGTGCACGTGGACATACAGAGGGGAATAATAGACACTGGGGACTCCAAAAGTGGGGAGAGTGGGAGGGGAAGGGTGAGGGTTGAAAAATTAACTATTGGGTACAATGTTCACTGTTTGGGTGATGGGTACACTAGAAGCCCAGACCTCACCACTACACAATATATCTGTATAATAAACCTACACATAAACCACCTGAATCTATGTATTAAAAAAGAAAGCATGAAAAAAATCCAAATAGTATTTCAAATGTATATAGGCTATGGTCCATTTCTAGGCA...
Task1_train_42281
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
CCTTTTAAAAACATAAACAAATATTGTTTCATACCATCATGGCATTTTGTAATGAGGATTTAACCCAGAGGCAAAAGATATAGGGTCAAACCTCAACTCTACCACTAGAAGCTGTGTGACTCCAGACAAGTCCTTGAACCTGTGTGAGAATTTGTTTTGTTCACTGTAAAATAAGGATTTTTGAGTGATATTTAAGTCATTTAAATAGTGATATTTATCAATGACAAATTGCTGTGAGTGGTTGAATGGGATAAACAAAAGTGTGAAGGTCTTTATACAATGAAAAGGAGCTATGCATATATATTATATATATATTTCCA...
CCTTTTAAAAACATAAACAAATATTGTTTCATACCATCATGGCATTTTGTAATGAGGATTTAACCCAGAGGCAAAAGATATAGGGTCAAACCTCAACTCTACCACTAGAAGCTGTGTGACTCCAGACAAGTCCTTGAACCTGTGTGAGAATTTGTTTTGTTCACTGTAAAATAAGGATTTTTGAGTGATATTTAAGTCATTTAAATAGTGATATTTATCAATGACAAATTGCTGTGAGTGGTTGAATGGGATAAACAAAAGTGTGAAGGTCTTTATACAATGAAAAGGAGCTATGCATATATATTATATATATATTTCCA...
Task1_train_42282
This mutation on Chromosome 12 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
ATTGAAGCTTTAGTTCTGGAAAGCATATCTGGTTTCTTGATGATGCTAAAAAATTCTTTTTTTTTTCTTATTAGAGGTATTAGGCTAATTATTATTTAATCCTTAAAATATTTCTTTTATTATTTTTTATTTTATTATTATTAGACTTTAAGTTTTAGGGTATATGTGCACAATGTGCAGGTTAGTTACATATGTATGCATGTGCCATGCTGGTGTGCTGTACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAAAGCTATCCCTCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTC...
ATTGAAGCTTTAGTTCTGGAAAGCATATCTGGTTTCTTGATGATGCTAAAAAATTCTTTTTTTTTTCTTATTAGAGGTATTAGGCTAATTATTATTTAATCCTTAAAATATTTCTTTTATTATTTTTTATTTTATTATTATTAGACTTTAAGTTTTAGGGTATATGTGCACAATGTGCAGGTTAGTTACATATGTATGCATGTGCCATGCTGGTGTGCTGTACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAAAGCTATCCCTCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTC...
Task1_train_42283
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
TTGAATTATATACATGTGACTATACTTTTTTCTGACCTATTTATAGAAAAAGTTGCAGACATGATGCCGTATTACTACCCTTTAATGCATCAGTGTGTATTTTTTCAAAATAAGGTTAGTCTCCTGTGTATCATAGTACAATCACCATCAGAAATTTAACATCAATACAATATTATCATCTAACTCCAGGTCTCATTCAAATTTTGCCAGTTGCCCTAGTGATGTCCTTTTATGTGTTGAATTTAGTTGCCATGTCTCAACTTGGAAGTTTCTTAGTTTTTCCTTGTTTTATATGACCTTACTTTTTTGAGTACAAGTCA...
TTGAATTATATACATGTGACTATACTTTTTTCTGACCTATTTATAGAAAAAGTTGCAGACATGATGCCGTATTACTACCCTTTAATGCATCAGTGTGTATTTTTTCAAAATAAGGTTAGTCTCCTGTGTATCATAGTACAATCACCATCAGAAATTTAACATCAATACAATATTATCATCTAACTCCAGGTCTCATTCAAATTTTGCCAGTTGCCCTAGTGATGTCCTTTTATGTGTTGAATTTAGTTGCCATGTCTCAACTTGGAAGTTTCTTAGTTTTTCCTTGTTTTATATGACCTTACTTTTTTGAGTACAAGTCA...
Task1_train_42284
This variant is present on Chromosome 12. Is the change likely to result in a pathogenic outcome?
Benign
CATCCAGTAAATGTTAGCTGTTGTTATTTTCATCATCAAGTTCTCTAGCAAAGACCTTAGTACGTGCCAGGCACTGAAAAGATTATTATTAAATGAGTTAGTAAGTGAAACCTTAAACAATATAAGAAATCAGGTGTTCAATATTTTTTCTTGTCTTCAAATAGACAGCTTTCAAGGACTAATAGGAAATATTATCTAGATTGCTTATCAGTTCTTAGCTTTTGGACTAAAATTTGTTATCAGGTTTATTCTATAGATTTTTCTGATATTCAGACTTCAGAATACTGAAGAAAAGCCCATAAAAACTTTTTCTTAGATGG...
CATCCAGTAAATGTTAGCTGTTGTTATTTTCATCATCAAGTTCTCTAGCAAAGACCTTAGTACGTGCCAGGCACTGAAAAGATTATTATTAAATGAGTTAGTAAGTGAAACCTTAAACAATATAAGAAATCAGGTGTTCAATATTTTTTCTTGTCTTCAAATAGACAGCTTTCAAGGACTAATAGGAAATATTATCTAGATTGCTTATCAGTTCTTAGCTTTTGGACTAAAATTTGTTATCAGGTTTATTCTATAGATTTTTCTGATATTCAGACTTCAGAATACTGAAGAAAAGCCCATAAAAACTTTTTCTTAGATGG...
Task1_train_42285
A genomic change on Chromosome 12 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
TTATTTGCAAATATAACTTCCAAAGCATATTACATACCTCCCCTACTCCAATTCCAAAAAGCAAAAGGAGAACAGCTACTCCCAGATACCTATTTCCTGTTACCAGAAACATTCTGGTAACAACTGTACCATTGAATTTATTTGGTTTGAGTTCCGACAAGCACTGGAATTTATTTAGTTTGAGTTTTTGTCTTTACTAGAAGAAAATATTTTCAAGATGCAAAATTAAATAATTTTTTTTGCAAGTCACTGTGAAGTTAGTTTTTCTAGTTTGGGAAGGAATTAAAATCAAACACAATAGTAGGTGCAGAGAACATTTC...
TTATTTGCAAATATAACTTCCAAAGCATATTACATACCTCCCCTACTCCAATTCCAAAAAGCAAAAGGAGAACAGCTACTCCCAGATACCTATTTCCTGTTACCAGAAACATTCTGGTAACAACTGTACCATTGAATTTATTTGGTTTGAGTTCCGACAAGCACTGGAATTTATTTAGTTTGAGTTTTTGTCTTTACTAGAAGAAAATATTTTCAAGATGCAAAATTAAATAATTTTTTTTGCAAGTCACTGTGAAGTTAGTTTTTCTAGTTTGGGAAGGAATTAAAATCAAACACAATAGTAGGTGCAGAGAACATTTC...
Task1_train_42286
A mutation has occurred on Chromosome 12. What is the medical relevance of this mutation?
Benign
TGGTGCGTGATGTTCCCCTCTCTGTGTCCACGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGAACATACGGTGTTTGGTTTTCTGTTCTTGTGTTAGTTTGCTGAGAACGATGGCTTCCAGCTTCATCCACGTCCCTGCAAAGGACATGAACGCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTGTGTGTGACACATTTTCTTTATCCAGTCTATCATTGATGGGTATTTGGGTTAGTTACAAGTCTTTGCTACTGTAACATCATCTGAAATGTGTTACTTTAATTTTATGAATGTTAGGTGTTATGTCTC...
TGGTGCGTGATGTTCCCCTCTCTGTGTCCACGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGAACATACGGTGTTTGGTTTTCTGTTCTTGTGTTAGTTTGCTGAGAACGATGGCTTCCAGCTTCATCCACGTCCCTGCAAAGGACATGAACGCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTGTGTGTGACACATTTTCTTTATCCAGTCTATCATTGATGGGTATTTGGGTTAGTTACAAGTCTTTGCTACTGTAACATCATCTGAAATGTGTTACTTTAATTTTATGAATGTTAGGTGTTATGTCTC...
Task1_train_42287
Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
Benign
GCTTCAGGTAGTTCTAACCAAGACGAACCACTCTAGATCAGTTTCTCTAGCATTCATCAGAAGATGATTAAATGCAGGCAATCACTTCCTCAGCAGCACATCTAAAAGCCCCAATGTGCAGCTCAACCCTTGATGAATTGCAAGCTCTTTCCAAGAGCCCAGACCTAGGAGCTACTAGATGGCCTAGGAGACTAGTCTGGAGTCACCTGTGCCAACGCCCCATGTATACATAAGACTTCACCTGGGAGCTAGGAGACACTGCTCTGGGTATGGAGCTTTTACAGGAGCTGCAAACGCAGCCTGTGCCCGTTTGGTTGGGG...
GCTTCAGGTAGTTCTAACCAAGACGAACCACTCTAGATCAGTTTCTCTAGCATTCATCAGAAGATGATTAAATGCAGGCAATCACTTCCTCAGCAGCACATCTAAAAGCCCCAATGTGCAGCTCAACCCTTGATGAATTGCAAGCTCTTTCCAAGAGCCCAGACCTAGGAGCTACTAGATGGCCTAGGAGACTAGTCTGGAGTCACCTGTGCCAACGCCCCATGTATACATAAGACTTCACCTGGGAGCTAGGAGACACTGCTCTGGGTATGGAGCTTTTACAGGAGCTGCAAACGCAGCCTGTGCCCGTTTGGTTGGGG...
Task1_train_42288
Assess the clinical impact of this variant found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
ATAAACTAAGAAGAGAATTTTGACCAGGTATCACAAGAAATTTGTACTGGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCC...
ATAAACTAAGAAGAGAATTTTGACCAGGTATCACAAGAAATTTGTACTGGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCC...
Task1_train_42289
Given this variant on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Benign
ACTAACCCTGTTTATTCCTGTGAACCAACCAGCAACCTCTGGCCATAGCTCATAAGGAACAAAAGTGGATGGGTAATGTAAAAATCTGGATCAATATTCTAGTTCTGAGAAACTATCCCACACATCCTGCCATTTGGGAAAATAAGGCCAAGGGAGTTAACCAAAGCCAAGCCCCATGCACCCAAATCTTAGCAAGCATAAATATAGCCACCACTCATCTGGGCATGTCACAAGACATCCTTTTCTCTCACTTGTTAGAGGAGGACTCAATTCCACAGTTACACCTTAGCAATCAGCTTATGATAAGGAGTCTATGCAAC...
ACTAACCCTGTTTATTCCTGTGAACCAACCAGCAACCTCTGGCCATAGCTCATAAGGAACAAAAGTGGATGGGTAATGTAAAAATCTGGATCAATATTCTAGTTCTGAGAAACTATCCCACACATCCTGCCATTTGGGAAAATAAGGCCAAGGGAGTTAACCAAAGCCAAGCCCCATGCACCCAAATCTTAGCAAGCATAAATATAGCCACCACTCATCTGGGCATGTCACAAGACATCCTTTTCTCTCACTTGTTAGAGGAGGACTCAATTCCACAGTTACACCTTAGCAATCAGCTTATGATAAGGAGTCTATGCAAC...
Task1_train_42290
This genomic variant is located on Chromosome 12. Can you determine its pathogenicity and name any linked disease?
Benign
GGCAGGAGGACTGCTTGAGGCCAGGAGTTTGAGACCAGTCTGGGCAACACAGCAAGACCCTGGCTCTACAAAAAATATAAAAATTAGCTGGGCATGGTAGTGCATGCCCGTAGTCCCAGCTACTTAAGAGGCTGAGGTGGGAGGATTGTTTGTGCCCAGAAGTTCGAGGCTGCAGTGAGCTATGACTGCACCACTGCAATCTAGCCTAGGCAAGAAGAGTGAGAACTTGTCTCCAAAAAAAAAAAAAAGAAGTTTTTATTAACTGCCATCTTTATACTGCTAACTATAGTACAAAAGACAACCATAATCCGTGCTTAATT...
GGCAGGAGGACTGCTTGAGGCCAGGAGTTTGAGACCAGTCTGGGCAACACAGCAAGACCCTGGCTCTACAAAAAATATAAAAATTAGCTGGGCATGGTAGTGCATGCCCGTAGTCCCAGCTACTTAAGAGGCTGAGGTGGGAGGATTGTTTGTGCCCAGAAGTTCGAGGCTGCAGTGAGCTATGACTGCACCACTGCAATCTAGCCTAGGCAAGAAGAGTGAGAACTTGTCTCCAAAAAAAAAAAAAAGAAGTTTTTATTAACTGCCATCTTTATACTGCTAACTATAGTACAAAAGACAACCATAATCCGTGCTTAATT...
Task1_train_42291
This is a variant located on Chromosome 12. Is this mutation a likely cause of disease or not?
Benign
GGGCAACACAGCAAGACCCTGGCTCTACAAAAAATATAAAAATTAGCTGGGCATGGTAGTGCATGCCCGTAGTCCCAGCTACTTAAGAGGCTGAGGTGGGAGGATTGTTTGTGCCCAGAAGTTCGAGGCTGCAGTGAGCTATGACTGCACCACTGCAATCTAGCCTAGGCAAGAAGAGTGAGAACTTGTCTCCAAAAAAAAAAAAAAGAAGTTTTTATTAACTGCCATCTTTATACTGCTAACTATAGTACAAAAGACAACCATAATCCGTGCTTAATTGAAAAAGTCCCAAACAAGAAACCACACTACTCAAAATGTGT...
GGGCAACACAGCAAGACCCTGGCTCTACAAAAAATATAAAAATTAGCTGGGCATGGTAGTGCATGCCCGTAGTCCCAGCTACTTAAGAGGCTGAGGTGGGAGGATTGTTTGTGCCCAGAAGTTCGAGGCTGCAGTGAGCTATGACTGCACCACTGCAATCTAGCCTAGGCAAGAAGAGTGAGAACTTGTCTCCAAAAAAAAAAAAAAGAAGTTTTTATTAACTGCCATCTTTATACTGCTAACTATAGTACAAAAGACAACCATAATCCGTGCTTAATTGAAAAAGTCCCAAACAAGAAACCACACTACTCAAAATGTGT...
Task1_train_42292
This variant lies on Chromosome 12. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TGATAGCTTTTGTTTTCATGGAGTAATTGGGGGAAAGTTGTTTGGTGGGGATTGGGAGTAAATGAGAGGTTAAAGAAAGTAATGAAGATTTAGTTAGGTCACTGAAGGGAGCGAGAAAGGGAAATGAAAAGATTGTTTGGCATTGAGGACCCAGTGAAATGGGAGGTCATGAATTTAAAGGGCTCAGTTTCAGAAAAGAGAATGTAGATCATGGACCCTAGGTTGGGGCTTTACTAGCAATGTGTGACAAAGAGACAGGGATGCCTGTGAGGGAGTGATCTAAGCGGTCAGCCATGCATCTGGCAGGGTAGGGGTGTCAG...
TGATAGCTTTTGTTTTCATGGAGTAATTGGGGGAAAGTTGTTTGGTGGGGATTGGGAGTAAATGAGAGGTTAAAGAAAGTAATGAAGATTTAGTTAGGTCACTGAAGGGAGCGAGAAAGGGAAATGAAAAGATTGTTTGGCATTGAGGACCCAGTGAAATGGGAGGTCATGAATTTAAAGGGCTCAGTTTCAGAAAAGAGAATGTAGATCATGGACCCTAGGTTGGGGCTTTACTAGCAATGTGTGACAAAGAGACAGGGATGCCTGTGAGGGAGTGATCTAAGCGGTCAGCCATGCATCTGGCAGGGTAGGGGTGTCAG...
Task1_train_42293
With a mutation on Chromosome 12, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
GTGGATTCTCATAGGATGATCATGCCAAATGGGGCATTTTAGTTTCTAAAATGAGAACGTTATTCATCTATATAAATATAAAGTTAAAATAGAAACTGTTTTAGGGTTGACAAAAACTCTCAAAGCAGTCCTTTAGCACTTCTGTGCCCCTGCTCTGAGGCAGGACCACTCTTAAATTCTTCCATTCAGATAAAAAATCTCTATTGTTTGAAAACACCTTCAGAGGAGATGTGGTAGGAATTTGCTTCACAAGCACAGTTACACTAGACGTTATTAAAACAAAAAGGTTTTAATTAATTACTTATAATCATGAGTCTCTT...
GTGGATTCTCATAGGATGATCATGCCAAATGGGGCATTTTAGTTTCTAAAATGAGAACGTTATTCATCTATATAAATATAAAGTTAAAATAGAAACTGTTTTAGGGTTGACAAAAACTCTCAAAGCAGTCCTTTAGCACTTCTGTGCCCCTGCTCTGAGGCAGGACCACTCTTAAATTCTTCCATTCAGATAAAAAATCTCTATTGTTTGAAAACACCTTCAGAGGAGATGTGGTAGGAATTTGCTTCACAAGCACAGTTACACTAGACGTTATTAAAACAAAAAGGTTTTAATTAATTACTTATAATCATGAGTCTCTT...
Task1_train_42294
A mutation located on Chromosome 12 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
AACTTCAAATCAAAATTACAATGAGAATCTATTTCATACCCTCGAAGATGGCTATAATCCGAAAATGGAAAACAAGTATTAGTGAGGATGTGAAGAAACTCAAATACTCAAACACTGCAGGTGGGAATGTAAAATAGTGTGGCTGATGTGGAGAACATTAAAAAGAATTACCATATGACCCAGCAATTCCACTTATCAAACAAAACCTTGTGCACCTGAATGTTCACAGCAGCACTATTCACAACACCCATAAGGGGAAAGAAATCCAAATGCCCAGCAACCGTTGAATGGATATGAAACGTGGTACATGCAATGGACTA...
AACTTCAAATCAAAATTACAATGAGAATCTATTTCATACCCTCGAAGATGGCTATAATCCGAAAATGGAAAACAAGTATTAGTGAGGATGTGAAGAAACTCAAATACTCAAACACTGCAGGTGGGAATGTAAAATAGTGTGGCTGATGTGGAGAACATTAAAAAGAATTACCATATGACCCAGCAATTCCACTTATCAAACAAAACCTTGTGCACCTGAATGTTCACAGCAGCACTATTCACAACACCCATAAGGGGAAAGAAATCCAAATGCCCAGCAACCGTTGAATGGATATGAAACGTGGTACATGCAATGGACTA...
Task1_train_42295
Consider this mutation on Chromosome 12. Is this a benign change or a disease-causing variant?
Benign
AGTTGGCTCTTACCCAAGGCCTGGCAACCCATATATTGACTAACAGCCTACAATGTGACCTGTGCCAACAACCAAGTGTACCAATCAGATTCTTTCTCTCTCCTTTCTTCCTTCCTTCCTTCCTTTTCCTTTCTTCCTCCCTCCCACCCCCCTTTCTTTTTAAGACAGGGTCTCACTCTGTCACTGAGGCTGGAGGGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGTTTAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTGGGACTACAAGCACGTGCCATAACATCTGGCTAATTTTTGTATTTT...
AGTTGGCTCTTACCCAAGGCCTGGCAACCCATATATTGACTAACAGCCTACAATGTGACCTGTGCCAACAACCAAGTGTACCAATCAGATTCTTTCTCTCTCCTTTCTTCCTTCCTTCCTTCCTTTTCCTTTCTTCCTCCCTCCCACCCCCCTTTCTTTTTAAGACAGGGTCTCACTCTGTCACTGAGGCTGGAGGGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGTTTAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTGGGACTACAAGCACGTGCCATAACATCTGGCTAATTTTTGTATTTT...
Task1_train_42296
This alteration occurs on Chromosome 12. Is it associated with a disease or is it a benign variant?
Benign
CCCTGGGCTTAGTCCATGGACCTTGTCTCTTCTGTTTATCTGCTAAATTCACGTAAATTCAATCTATATACTACTCCCAAATTTCTAGCCCAAGTCTCCCTCTGGAATGTCATCTTCATCCATCTATTTGCCTATTTGACAGACATCTCCAATTTAACAGCTCAGAAATGCTCCCCCAGCCCTCCCAAAGTTTTCCCATCTCAGTAATGGCAGTTCCATTCTTCATTTGTTCAGGCCAAAAATATTAGCCTTTTGTGACTTGTCACTTTCTCTCACAAACCACATCCTATCTCTCAGTAAATAATGCTGCTGACTGTGCC...
CCCTGGGCTTAGTCCATGGACCTTGTCTCTTCTGTTTATCTGCTAAATTCACGTAAATTCAATCTATATACTACTCCCAAATTTCTAGCCCAAGTCTCCCTCTGGAATGTCATCTTCATCCATCTATTTGCCTATTTGACAGACATCTCCAATTTAACAGCTCAGAAATGCTCCCCCAGCCCTCCCAAAGTTTTCCCATCTCAGTAATGGCAGTTCCATTCTTCATTTGTTCAGGCCAAAAATATTAGCCTTTTGTGACTTGTCACTTTCTCTCACAAACCACATCCTATCTCTCAGTAAATAATGCTGCTGACTGTGCC...
Task1_train_42297
This sequence change occurs on Chromosome 12. What is the medical significance of this variant — is it benign or linked to a disease?
Benign
AAAACATTAGGGACATAAAATTTTTTTGTATCTACCTTCCCATATTTCTCTTTCAGGAGCAGTGTTGAGTCCTTCAGAGAAGAGTTATCAGGAAGGTGGATTTCCAAATATATTATTCAAGGTAGAGTATGTGTGCATAGAAAATGAGCCTTGAACTTTGTTGCATGTATAATTGAGCATAAGGAATGAAATTAGCAGGCAGAAAAATGCTGGATTTGCCGGCACTTTTTAAAAATCAGAAATGCCTTTGTTCTCTCATTATTCTCTATTTAGTTGAGGATTTAGGAAATTAGAGATTTATAAATATTTGAGAAATTAAG...
AAAACATTAGGGACATAAAATTTTTTTGTATCTACCTTCCCATATTTCTCTTTCAGGAGCAGTGTTGAGTCCTTCAGAGAAGAGTTATCAGGAAGGTGGATTTCCAAATATATTATTCAAGGTAGAGTATGTGTGCATAGAAAATGAGCCTTGAACTTTGTTGCATGTATAATTGAGCATAAGGAATGAAATTAGCAGGCAGAAAAATGCTGGATTTGCCGGCACTTTTTAAAAATCAGAAATGCCTTTGTTCTCTCATTATTCTCTATTTAGTTGAGGATTTAGGAAATTAGAGATTTATAAATATTTGAGAAATTAAG...
Task1_train_42298
Here’s a variant located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
Benign
GGGACCCGAGCGGGTTGCCCTTTTTTTTTTTTTTTTTTTTTAAAATTATTCTCATTTTAATGGTCGTCCTTTAATTTAATGTACCTTTAATGTAAGGTAGTTTTACGCTTAAGGAAACAGTGGATGTTGAGTCTCTATTTCCACCCAGAATCGGAACTTTTATTTTTCCTTCTGACCACTTATCCTCAAGTTCTATAGAATGAGAACTTGTAATTATTATCCTATATTGCCTGGAGTCAAATACGTGGTTCTTCCTCAGCTTCTTGGAAAAACAAAACAGTCCGGGCGCGGTGGCTCACGCACTTTGGGAGGCCGAGGCA...
GGGACCCGAGCGGGTTGCCCTTTTTTTTTTTTTTTTTTTTTAAAATTATTCTCATTTTAATGGTCGTCCTTTAATTTAATGTACCTTTAATGTAAGGTAGTTTTACGCTTAAGGAAACAGTGGATGTTGAGTCTCTATTTCCACCCAGAATCGGAACTTTTATTTTTCCTTCTGACCACTTATCCTCAAGTTCTATAGAATGAGAACTTGTAATTATTATCCTATATTGCCTGGAGTCAAATACGTGGTTCTTCCTCAGCTTCTTGGAAAAACAAAACAGTCCGGGCGCGGTGGCTCACGCACTTTGGGAGGCCGAGGCA...
Task1_train_42299
A variant was discovered on Chromosome 12. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TAAAGGTGAAGCTCTGCCTTCATGGAGCTTCCAGCCTGTGATAGAGGAAGTACAGGGTGCTGGAGAGTAATAGATGGGGCGGCTACTCCAGACATGGGCCAAATTGAGGCCATGGACTGAGGAATGCTGACAGGACCTGGAAGTCCCTTGTGCTGGGTGGAGCATGGTTCATGGAAAAGAAAGGGAAAAAAGTAAGGAGAGGAGCAGGGCCAAGCTGGCTCTTGAAGGGCTTTACAAACACATTAAGGGGTTAGGACTTTATTTGGAGTCCCTGCGAGCCATTAGAGGTTTTAAGCAGCATCTAATATGATTGGGTTTGC...
TAAAGGTGAAGCTCTGCCTTCATGGAGCTTCCAGCCTGTGATAGAGGAAGTACAGGGTGCTGGAGAGTAATAGATGGGGCGGCTACTCCAGACATGGGCCAAATTGAGGCCATGGACTGAGGAATGCTGACAGGACCTGGAAGTCCCTTGTGCTGGGTGGAGCATGGTTCATGGAAAAGAAAGGGAAAAAAGTAAGGAGAGGAGCAGGGCCAAGCTGGCTCTTGAAGGGCTTTACAAACACATTAAGGGGTTAGGACTTTATTTGGAGTCCCTGCGAGCCATTAGAGGTTTTAAGCAGCATCTAATATGATTGGGTTTGC...