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_13800
|
Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Multiple endocrine neoplasia type 2A
|
ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCC
|
ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTACGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCC
|
Task1_train_13801
|
Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTC
|
TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCTACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTC
|
Task1_train_13802
|
A variant was discovered on Chromosome 10, affecting RET (ret proto-oncogene). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Multiple endocrine neoplasia, type 2
|
TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTC
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TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCTACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTC
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Task1_train_13803
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A variant affecting Chromosome 10, within the gene RET (ret proto-oncogene), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13804
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This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13805
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This variant affects the gene RET (ret proto-oncogene) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13806
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This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Thyroid gland carcinoma
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13807
|
Given this context: Chromosome 10, gene RET (ret proto-oncogene) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Multiple endocrine neoplasia type 2A
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13808
|
Here is a genetic alteration in RET (ret proto-oncogene) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Pheochromocytoma
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13809
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Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Multiple endocrine neoplasia type 2B
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13810
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A genomic change on Chromosome 10 affects RET (ret proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13811
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Here is a mutation in RET (ret proto-oncogene) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Multiple endocrine neoplasia type 2A
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13812
|
Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGCGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13813
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This alteration occurs within gene RET (ret proto-oncogene) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGGGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13814
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Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Familial medullary thyroid carcinoma
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGGGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13815
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This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGGGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13816
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With a mutation on Chromosome 10 in gene RET (ret proto-oncogene), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; MEN2 phenotype: Unclassified
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGGGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTC
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Task1_train_13817
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The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13818
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This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Multiple endocrine neoplasia type 2B
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13819
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The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Multiple endocrine neoplasia type 2A
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13820
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A variant was discovered on Chromosome 10, affecting RET (ret proto-oncogene). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Multiple endocrine neoplasia type 2A
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13821
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A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13822
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A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Pheochromocytoma
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13823
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This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Multiple endocrine neoplasia type 2B
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13824
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A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Familial medullary thyroid carcinoma
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13825
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Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13826
|
This sequence variant lies in RET (ret proto-oncogene) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTACCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13827
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This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTCCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13828
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This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Multiple endocrine neoplasia type 2B
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTCCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13829
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This gene mutation involves RET (ret proto-oncogene) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTCCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13830
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Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTTCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13831
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Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Multiple endocrine neoplasia type 2A
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTTCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13832
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Assess the clinical impact of this variant on gene RET (ret proto-oncogene), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Multiple endocrine neoplasia, type 2
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTTCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCC
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Task1_train_13833
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Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Multiple endocrine neoplasia type 2A
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGGCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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Task1_train_13834
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A variant has been detected on Chromosome 10 in RET (ret proto-oncogene). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGGCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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Task1_train_13835
|
Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Multiple endocrine neoplasia, type 2
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGGCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCC
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Task1_train_13836
|
This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Multiple endocrine neoplasia type 2A
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TTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTC
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TTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATTTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGCATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGCTGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGGCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTGCCTTTCTGGGGAGCCTGGCCTGCAGGTCTGCATGTGCTACTCAGAGCCTCCAGGCTGTGCCGAGTATCCTGGAGCCTCCTTGTCCCGGCCAGGCAGGCCTCTGCCCTCTCCTGGTGGTGGCCTGCCCCTTCAGTGTTCCTACTAGCACTGTCCAGGGCGCTGGAAGCCAAGCCCAGTTCTGGAAGTAACAGAGGCTCAGAGCCAAGGGTGTGAGTGAACGGTGAGCCACGCAGCTTATGGTGGCGTGAATAGCTCCTCGGCAGGAGCCTCCAGGGAGGAAGCTGAGCACCCAGTGGCCACAGGGCCCTGGCAGTTCCCATCTCAGGCTGGGAGGTGGCCTGGGATTCCTGGGAGGGGCCATATCCCACAGTGCAGCTCAGCCTGAGGCCTCGGCCCTGGAGCCTCCGTTCAGGCAACACCCAGCCCTCGGTAAGGGTGTGAGCCAAGGAGGCCTTCCCAGATGTGGCCACTGCCGCTTCCCCACCAGCTTTCCTAATTGGTGGTCCCCATCCTGGCCTGGCTGCAGCTTAGCCTCATGGCAGGGCTCTAGGATGAGCCACCAGAGTCCTTCATAAACCCAGTGGGTTTGTGTGAGGCTGCCCAGGAAGGCCGCACTGGTCTGGGCTGCTGCTGGCAGAGACCACCACCCTAACCCCAGTCAGCTCCAGAGTCACACTCATCAGCACCAGGTCTTGGACCCATGACTCAACCTCAGTATTTGAGAGGATCAGGTTGATGTCGCCCTCATGTGCTTATTGCAGTCTCTAGAGTGTGGTAAACAGGTTTCCAGTGCCAGCTGTGGAGGTGACAGCGGCAGGGAAGCCATGGCAGTGTCGACACTGACCTTGACTGTGGGTTCCCAGGGAATGTGGGGCCAGACCAGGACAGCCCAGGAGCAGGAGACCTGGGGTGACGGATGCCCAGAGCTGGCACATCAAGGGAGGGTTCCTGGATCATGGCAGGCTTTGGCCTCCCTGGTCAGAGTTCAAGTACTGGGGGCCAGGGTGGGGGTCTGGGAAGGCATCCGGAGCAGTCCCAAGTGGGCCCAATGTGTGGATAGAACTTTGGTGGGAGGGCAGGGTGGTAGTGCCAGCAGGCAGGGTGAGCGGGTGCGTGAGGGCCAGTGGCAGCCCTTGAGGAGCAGTGCTTCCACACTCTGAGGCGGAACATGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTGGTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTC
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Task1_train_13837
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This mutation is located in gene RET (ret proto-oncogene) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACCTGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCCCCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACTTTGCTCTCCCTGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCCCTTTGATTTTGAGCTGACAGCTGTCTTCACTCCAGTCTGCCCCATTCATTCCTCTCAGCCCAGTGTCTCCTGGGGTCTTGGTGAAGAGACCACCAGTAAGGACTGGCCCTCAATCTCAAGAGACCCCCATGGGCCTGTCTGGCCTGCATGCCCAGTCATGCCACAAGTTTGGCTCTCGATGGGCACATGCACCTACCCACACAGGCATGCGACTGCACTGAGTAGCCCCCTCTTCTGTGGCCAGGCCCCAGCCCTGTGAACAGCCAGGCTGAATGGCGGTGAGGGAGAGTGGTTGGTGTACATAACAATTATCTGCAGTAGTCGGGGGCTGCACAGCACAGGGTGCTTCCAGATGCCTACCCAGCCCCAGACTGGGTTCACCTCCAAGCCAGTAAAACCCCGGACTCTCCAGGGGCACAGGGAGACCCTTGGATTTCCATTGCAGCCATGCACAGCCCCAGGCTGCCCACACCTGGTCCAAGGGGTCCTGGGGCCCCAACTCCCAACTGTCCTCTCCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCA
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AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACCTGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCCCCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACTTTGCTCTCCCTGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCCCTTTGATTTTGAGCTGACAGCTGTCTTCACTCCAGTCTGCCCCATTCATTCCTCTCAGCCCAGTGTCTCCTGGGGTCTTGGTGAAGAGACCACCAGTAAGGACTGGCCCTCAATCTCAAGAGACCCCCATGGGCCTGTCTGGCCTGCATGCCCAGTCATGCCACAAGTTTGGCTCTCGATGGGCACATGCACCTACCCACACAGGCATGCGACTGCACTGAGTAGCCCCCTCTTCTGTGGCCAGGCCCCAGCCCTGTGAACAGCCAGGCTGAATGGCGGTGAGGGAGAGTGGTTGGTGTACATAACAATTATCTGCAGTAGTCGGGGGCTGCACAGCACAGGGTGCTTCCAGATGCCTACCCAGCCCCAGACTGGGTTCACCTCCAAGCCAGTAAAACCCCGGACTCTCCAGGGGCACAGGGAGACCCTTGGATTTCCATTGCAGCCATGCACAGCCCCAGGCTGCCCACACCTGGTCCAAGGGGTCCTGGGGCCCCAACTCCCAACTGTCCTCTCCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGACCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCA
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Task1_train_13838
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Here is a genetic alteration in RET (ret proto-oncogene) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Multiple endocrine neoplasia, type 2
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AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACCTGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCCCCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACTTTGCTCTCCCTGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCCCTTTGATTTTGAGCTGACAGCTGTCTTCACTCCAGTCTGCCCCATTCATTCCTCTCAGCCCAGTGTCTCCTGGGGTCTTGGTGAAGAGACCACCAGTAAGGACTGGCCCTCAATCTCAAGAGACCCCCATGGGCCTGTCTGGCCTGCATGCCCAGTCATGCCACAAGTTTGGCTCTCGATGGGCACATGCACCTACCCACACAGGCATGCGACTGCACTGAGTAGCCCCCTCTTCTGTGGCCAGGCCCCAGCCCTGTGAACAGCCAGGCTGAATGGCGGTGAGGGAGAGTGGTTGGTGTACATAACAATTATCTGCAGTAGTCGGGGGCTGCACAGCACAGGGTGCTTCCAGATGCCTACCCAGCCCCAGACTGGGTTCACCTCCAAGCCAGTAAAACCCCGGACTCTCCAGGGGCACAGGGAGACCCTTGGATTTCCATTGCAGCCATGCACAGCCCCAGGCTGCCCACACCTGGTCCAAGGGGTCCTGGGGCCCCAACTCCCAACTGTCCTCTCCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCA
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AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACCTGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCCCCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACTTTGCTCTCCCTGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCCCTTTGATTTTGAGCTGACAGCTGTCTTCACTCCAGTCTGCCCCATTCATTCCTCTCAGCCCAGTGTCTCCTGGGGTCTTGGTGAAGAGACCACCAGTAAGGACTGGCCCTCAATCTCAAGAGACCCCCATGGGCCTGTCTGGCCTGCATGCCCAGTCATGCCACAAGTTTGGCTCTCGATGGGCACATGCACCTACCCACACAGGCATGCGACTGCACTGAGTAGCCCCCTCTTCTGTGGCCAGGCCCCAGCCCTGTGAACAGCCAGGCTGAATGGCGGTGAGGGAGAGTGGTTGGTGTACATAACAATTATCTGCAGTAGTCGGGGGCTGCACAGCACAGGGTGCTTCCAGATGCCTACCCAGCCCCAGACTGGGTTCACCTCCAAGCCAGTAAAACCCCGGACTCTCCAGGGGCACAGGGAGACCCTTGGATTTCCATTGCAGCCATGCACAGCCCCAGGCTGCCCACACCTGGTCCAAGGGGTCCTGGGGCCCCAACTCCCAACTGTCCTCTCCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGACCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCA
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Task1_train_13839
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This mutation is located in gene RET (ret proto-oncogene) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCCTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13840
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A mutation on Chromosome 10 affecting RET (ret proto-oncogene) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; MEN2 phenotype: Unclassified
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCCTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13841
|
A mutation found in RET (ret proto-oncogene) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Multiple endocrine neoplasia type 2A
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCCTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13842
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The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Multiple endocrine neoplasia, type 2
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCCTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13843
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A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Multiple endocrine neoplasia type 2A
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13844
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The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Multiple endocrine neoplasia, type 2
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13845
|
A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Multiple endocrine neoplasia
|
CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13846
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Located on Chromosome 10, this mutation impacts RET (ret proto-oncogene). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Familial medullary thyroid carcinoma
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13847
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Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13848
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This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Multiple endocrine neoplasia type 2A
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13849
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Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13850
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A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Pheochromocytoma
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13851
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This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Multiple endocrine neoplasia type 2B
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13852
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This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Familial medullary thyroid carcinoma
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAATGTGGGTCTTCTTGGTAACTAACGGAGTGTGAGCTGCTGACGTGTGTGTGACGGATACATCAGCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCTTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCC
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Task1_train_13853
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A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13854
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This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Multiple endocrine neoplasia II
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13855
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Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Medullary thyroid carcinoma
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13856
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This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Multiple endocrine neoplasia, type 2
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13857
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A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless?
|
Pathogenic; Multiple endocrine neoplasia type 2B
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13858
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A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Multiple endocrine neoplasia type 2A
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13859
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The following genetic variant occurs in RET (ret proto-oncogene) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hereditary cancer-predisposing syndrome
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13860
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This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Familial medullary thyroid carcinoma
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13861
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Gene RET (ret proto-oncogene) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; MEN2 phenotype: Unclassified
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13862
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This variant lies on Chromosome 10 and affects the gene RET (ret proto-oncogene). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Multiple endocrine neoplasia type 2A
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13863
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Consider this mutation in RET (ret proto-oncogene) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Hirschsprung disease, susceptibility to, 1
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13864
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This variant affects the gene RET (ret proto-oncogene) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pheochromocytoma
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13865
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This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Multiple endocrine neoplasia type 2B
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13866
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A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Familial medullary thyroid carcinoma
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGCCTGGTTTGTTGGTTTTCCAAACCACCATGCTGCTCAGGGGCTTCCCAGCATGCGTGTGTGGGTGTGTGCGAGAGGGATAGGGAACCCAAACACCGGGAGTGCGCAGCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCCCAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAAAGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCAGCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAGGGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTGCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCTTGGACACTGGGCTGGGTGAGTTTAGAGGCATAGGAACCCCCTGGACAGGATCCAGAAACGCAGCCCAGCTTTGTCCAAGTCTATGAAACAGGCAGTGGGCACCCTTGGGGACACCTGGTTCCCTACCATGGTCCTAGTCCCGGGACAACTGCCTTGGCCCTCTTAGTTTTTCTGCCCATGTCAGCCCCTCTCCTGCAGCCTCCCAGTGGCAGCCCAGGCAGGGCAAGTTCAAGGGGCTGCTCAAAGGCCATGCCGCCCAGACGTTCAGAGCAGACCCTGCTCAAAAAAGAAGAAGAAGAAAAAAAAAAACCACAAAAGGCGACTTCCTATGATTCAGCTTTGCTCTGAGGGGTCTGGAGAAGCCATTTGTGTTGCCAGGGGTTGTGAGCTGTTCCGTTTCTTCTGGGGTTTCCCTTGTGACAGCAGATCTCAGAACTGCTGTGGGGGGAAGTGGTAGGGGCTGGCCCCTGCCCTGTGGAGGGTGTGGACAGAGCCTTCCTGTTGATGCACTGGTCCTCCAGGGAGAGAAGCTGAAGGCATTCTTATACAAGACGTGCAGGCTACACTGTCACACACTGCTGCCAAGACAGCCACACTGCACTAAGGACATAAATCCCTCATGTGTTTAAGTAAAAGAAGTGACAGTAAGATTGTGTTCCAACCCAAGGCACACATTTTAAAAATGGACTTGCACCTTCAGGCTTGTCTGTGGAGAAGCTGTTTCTCAAGTCACCCTGGAAAGGATTTGTTAGGTCAGACCCCAGCACTGATGAGGGATGTAGGGGGCTGGGGGCACTCATTCAGAGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTG
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Task1_train_13867
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This sequence variant lies in GDF2 (growth differentiation factor 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 5
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CAAGTTTTCTATACTATAGACTACTGTTATAACAGGGGAAAAAAATGTCACATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGCCCATGTCATCAAAGGACAGAGATAGCAAGTTCTATTCAGGCCCAGCCATTCAGGGGCTCCTGATTTCACCCATCCCCCTCTGCAATCTCTGACCGCAGCATGCTGTGGCCCCTCCTGCACCCCCCTAAACCTGCTCAGCTCTCTGCAGCCTCTCCCGGACAGCCTCACCAGCATAGAATACCTTCCCCAGAGTAAACCACCAGGCACAGCATACCCCAGAGTGTTTCTAACCATGATCCTTCTTTGCTTTGCTCAAAGCCACACGTGATGGAAATGGACAGAGTCTAAGTGTGGACATACTGCTCTTAACGCAGTCCCTGGGGCCCTTTCCTGGGCCACAGCTTATCAGCCTCCAAAGGCCAGGGGATCATCTTCTTGGCATGTACCACTCTCAGAACAACCCACCTACTCCCCTGTCTACCAGATTGCGTGGTTCTCCCTGCTGATGAGTGTGGGCCAGGTGGCTGCCAGGTTGGTGTGAGCTAAGACCACCCCACAACAGACCAGTGACACAGCTGGGATGCAGGGATGTGGGGAGCTCCCCACAGGCTGCAGTGTGTTGTGGAGCTCCGACAGAGCAGGCTGGGGGAACCCAGGGCTTCCTCCCCCAGCTCCAGCTCAATCAGGCCTGGGCTGGAGAGGGGGCATCCAGAATGCAGCCACCAAGCCAGCCTGGGGCACAGCATCCTCTTAACCCCTATAACTATCTTCTGAATGGGAGGCTCCAAGAGCTGCAGTGACTTGTTCCAGGTGACATTTGCAGGGAATCGGTGAGGGAGTTGAGATCCCAGCCTGTGTCTAGTTTGACTCATCACCGCACTAAATTGCACGGGAGCCATATTCACTCGTGATCTCTAATGCTCAGCAGTGCATCCCACCAACAGAGCAGGGAGGCTTGCTGGCAGGTTCCGATTCTGCAAGGAGCAGGCCTCTTCTGAGCCCTGATGTGGTCCCCACACTCTCCCCATCTCCCCAGCCCCCACGGTTCACTGTGATCTTGTGCTGTCCTTTCTATATTTGGAGGACTACTTGGTCTTGTTTCCTGGATTCTTCACTCCTGTGGCCCAGGAGATGGAGCATATGTCACCCTGCCTGGAGATTCTTCTGAAGAGCCCTGGCAAGGAAATGAGAAAGTATCCTAATTAGGGGGCAATAACCCCCTGGAGAAGCACAGATTCTTTACAGTAGGCCGTGTCCTTCCCGCATGCCCTGTGTGTTTGTCAGATGTTTATAGAGCCTTCATTAACGGAAGGCTCCCTCAGATAAGACGTCGGAGCGCGGCATCGAGGACCAGATAAGCACAAGTGGAGGACAATCCAGCCCGGCAGCGGGTGAGAGTGGGTGCTGGCCAGGACGGTTCCTTCAGAGCAAACAGCAGGGAGATGCCGGCCCGCTCCTTCCCAGCTCCTCCCCGTGCCCGCTAACACAGCACGGCCGCCTGCAGTCTCCTCTCTGGGTGATTGCGCGGGCCTAAGATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTACAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGAAACGCCCACAGCCCACTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAGAACGTGAAGGTGGATTTCCTGCGCAGCCTTAACCTGAGTGGGGTCCCTTCGCAGGACAAAACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAGTCGACTACGCCAGCGTCCAACATTGTGCGGAGCTTCAGCATGGAAGGTAGGGTCTCCGCTTGCACCATGCGCGCTGGGGTGGGACTCACAGGTCCACAGCTGCTTTCCCCAGGGTGGAGGCCACTGGCCATAGGAGGCTCTTCAAGCTTCCATTTAAATTAGTTACAATGAAATAAAATTAAAACTTATTTCTTTAGCCTCACCAGCTTCCTTTCAAATGCGTGGCTAATGGCTTCCCTATCAGGCAGTGCAGACTGAAGAACATTTCCATGGTTACTGAGAGTTCTACTCAGCACTTCTGTTGTGAAGGATTCACCTTCCCCAAGCTGTGTGCCACATTTCACACAGCAGGTGCACAGGGATGCCAGCTCTCTTTTTTCCACCCCTTCTCTTTACTCTCCTCTTCTTTGCATCACTCCCCTCTGATTCACTTCTCTTCCTTTCCCCCTTCCCTTCCTGTCCCCTTCCTACTTCAGAACAGAACAGGCAACCTATTTCACCTCCAACTAACTGGGATATTTTTAAATTTTCAAAGCACATCTATTCCTTTCTTATGAAACGGTTTTAAAAATCAGATAAAATTCTTGGACAGAGAAGTGTTGGCAGAGAACCTAATTGTTTTTAAATAGAAATATATCTGATTTAGAAGGACTAGAAGATAACAAACACGGACCTAGGACCTATGTCCTAACTCAGACAAGCTCACATGATGCAGGGGAAATAAGTTTCTGAAGAGCAAAACTGTTCAGTCAAAGCTTGCAGCCACCAAGGGTACCCACCCATGTCACCTAGGAAGTGTTAAGCCTGCACACCTAGGAAGTGTTAAACCTGTCTGCCTGCAGAGCTGGCTTTTCCTGCTGCTGCTGTCTCCCTCTGAATGTCCAGGAGCACAGAGCCTCTCCCTTCCTGGGTCTGAGACTTGCAAATGGCTAAGGGGCCTGGCTCCATACCACGCCCAGGCCAGACCTAACTGGTCTGCAGAGGCAGGACTGGCACTTCAAAACCTGCCAGCTAGGTTTCCCTATAGCACAGGGTCTCCACACATGTGGGTATATAGCAAGTGCTGAAAAAATGCAACCTCTTTTCCCTGTCTGTGAACCAGCCATTGTATAGCAGGAGCGTGCTAATGACAAAGTGTCAGCCCAGGATAAATGGGATATCGAGATAACTATGTGGCTAAAAGCCAAGCCCCATTTTTGCTTGACATGACAAAGCAATTGAAGCTAATAGATTTTGTTCCTGAAACACTAAAACCAATTATCCACTTTTGCTTTGTTTGGAAATTACAATTTCAAACGATTTATACACTGTTTAGAGGCTGAGATTTTTGATATTGTCTTAATATTGGGGTTTCACTGTCCCCACCCAGGATCTCTCCTTTAAATTCATACACTCAGGATCTTCACTCAGGATCTGACAGTGAGTTTTTCTGTTTTCTTTATGTACTCAATAGCTGTGTGCTAGTAAGTCCCAGAATACTTAACTAGCTGTATGCATTTTGGCAATTAACTGCCTTGAATCCCAGTCTCCACATCTGCAAATGTGGAATAATAATTAGATCCTCCCAGGGTAAGTGAGAGGATTAAGGTGAAATGTATTCTGCAAAGCTCCCAGTGTAATGCCTGGCACATAGTAGATGCTCGATAAACAGTAGGAACTCTCAATCCCAATTGGAGGCATCTCCTTTGGAAGATCTTAAGTGTACCTTTCAAAATACTCTTATACTTTAAGGGCTTGGGTGAAACCAAATAGAGATAATACAGACCAAAATTGTTATCCCAGATGCTCTTCTGTCTAAACCCTGAGACTCAGCTTCAGTGTCATGGAAACAGACCCTCCAGCAGATGCCCACCACGTGTGTTTGCATTTCAGATGCCATCTCCATAACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCTAGGC
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CAAGTTTTCTATACTATAGACTACTGTTATAACAGGGGAAAAAAATGTCACATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGCCCATGTCATCAAAGGACAGAGATAGCAAGTTCTATTCAGGCCCAGCCATTCAGGGGCTCCTGATTTCACCCATCCCCCTCTGCAATCTCTGACCGCAGCATGCTGTGGCCCCTCCTGCACCCCCCTAAACCTGCTCAGCTCTCTGCAGCCTCTCCCGGACAGCCTCACCAGCATAGAATACCTTCCCCAGAGTAAACCACCAGGCACAGCATACCCCAGAGTGTTTCTAACCATGATCCTTCTTTGCTTTGCTCAAAGCCACACGTGATGGAAATGGACAGAGTCTAAGTGTGGACATACTGCTCTTAACGCAGTCCCTGGGGCCCTTTCCTGGGCCACAGCTTATCAGCCTCCAAAGGCCAGGGGATCATCTTCTTGGCATGTACCACTCTCAGAACAACCCACCTACTCCCCTGTCTACCAGATTGCGTGGTTCTCCCTGCTGATGAGTGTGGGCCAGGTGGCTGCCAGGTTGGTGTGAGCTAAGACCACCCCACAACAGACCAGTGACACAGCTGGGATGCAGGGATGTGGGGAGCTCCCCACAGGCTGCAGTGTGTTGTGGAGCTCCGACAGAGCAGGCTGGGGGAACCCAGGGCTTCCTCCCCCAGCTCCAGCTCAATCAGGCCTGGGCTGGAGAGGGGGCATCCAGAATGCAGCCACCAAGCCAGCCTGGGGCACAGCATCCTCTTAACCCCTATAACTATCTTCTGAATGGGAGGCTCCAAGAGCTGCAGTGACTTGTTCCAGGTGACATTTGCAGGGAATCGGTGAGGGAGTTGAGATCCCAGCCTGTGTCTAGTTTGACTCATCACCGCACTAAATTGCACGGGAGCCATATTCACTCGTGATCTCTAATGCTCAGCAGTGCATCCCACCAACAGAGCAGGGAGGCTTGCTGGCAGGTTCCGATTCTGCAAGGAGCAGGCCTCTTCTGAGCCCTGATGTGGTCCCCACACTCTCCCCATCTCCCCAGCCCCCACGGTTCACTGTGATCTTGTGCTGTCCTTTCTATATTTGGAGGACTACTTGGTCTTGTTTCCTGGATTCTTCACTCCTGTGGCCCAGGAGATGGAGCATATGTCACCCTGCCTGGAGATTCTTCTGAAGAGCCCTGGCAAGGAAATGAGAAAGTATCCTAATTAGGGGGCAATAACCCCCTGGAGAAGCACAGATTCTTTACAGTAGGCCGTGTCCTTCCCGCATGCCCTGTGTGTTTGTCAGATGTTTATAGAGCCTTCATTAACGGAAGGCTCCCTCAGATAAGACGTCGGAGCGCGGCATCGAGGACCAGATAAGCACAAGTGGAGGACAATCCAGCCCGGCAGCGGGTGAGAGTGGGTGCTGGCCAGGACGGTTCCTTCAGAGCAAACAGCAGGGAGATGCCGGCCCGCTCCTTCCCAGCTCCTCCCCGTGCCCGCTAACACAGCACGGCCGCCTGCAGTCTCCTCTCTGGGTGATTGCGCGGGCCTAAGATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTACAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGAAACGCCCACAGCCCACTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAGAACGTGAAGGTGGATTTCCTGCTCAGCCTTAACCTGAGTGGGGTCCCTTCGCAGGACAAAACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAGTCGACTACGCCAGCGTCCAACATTGTGCGGAGCTTCAGCATGGAAGGTAGGGTCTCCGCTTGCACCATGCGCGCTGGGGTGGGACTCACAGGTCCACAGCTGCTTTCCCCAGGGTGGAGGCCACTGGCCATAGGAGGCTCTTCAAGCTTCCATTTAAATTAGTTACAATGAAATAAAATTAAAACTTATTTCTTTAGCCTCACCAGCTTCCTTTCAAATGCGTGGCTAATGGCTTCCCTATCAGGCAGTGCAGACTGAAGAACATTTCCATGGTTACTGAGAGTTCTACTCAGCACTTCTGTTGTGAAGGATTCACCTTCCCCAAGCTGTGTGCCACATTTCACACAGCAGGTGCACAGGGATGCCAGCTCTCTTTTTTCCACCCCTTCTCTTTACTCTCCTCTTCTTTGCATCACTCCCCTCTGATTCACTTCTCTTCCTTTCCCCCTTCCCTTCCTGTCCCCTTCCTACTTCAGAACAGAACAGGCAACCTATTTCACCTCCAACTAACTGGGATATTTTTAAATTTTCAAAGCACATCTATTCCTTTCTTATGAAACGGTTTTAAAAATCAGATAAAATTCTTGGACAGAGAAGTGTTGGCAGAGAACCTAATTGTTTTTAAATAGAAATATATCTGATTTAGAAGGACTAGAAGATAACAAACACGGACCTAGGACCTATGTCCTAACTCAGACAAGCTCACATGATGCAGGGGAAATAAGTTTCTGAAGAGCAAAACTGTTCAGTCAAAGCTTGCAGCCACCAAGGGTACCCACCCATGTCACCTAGGAAGTGTTAAGCCTGCACACCTAGGAAGTGTTAAACCTGTCTGCCTGCAGAGCTGGCTTTTCCTGCTGCTGCTGTCTCCCTCTGAATGTCCAGGAGCACAGAGCCTCTCCCTTCCTGGGTCTGAGACTTGCAAATGGCTAAGGGGCCTGGCTCCATACCACGCCCAGGCCAGACCTAACTGGTCTGCAGAGGCAGGACTGGCACTTCAAAACCTGCCAGCTAGGTTTCCCTATAGCACAGGGTCTCCACACATGTGGGTATATAGCAAGTGCTGAAAAAATGCAACCTCTTTTCCCTGTCTGTGAACCAGCCATTGTATAGCAGGAGCGTGCTAATGACAAAGTGTCAGCCCAGGATAAATGGGATATCGAGATAACTATGTGGCTAAAAGCCAAGCCCCATTTTTGCTTGACATGACAAAGCAATTGAAGCTAATAGATTTTGTTCCTGAAACACTAAAACCAATTATCCACTTTTGCTTTGTTTGGAAATTACAATTTCAAACGATTTATACACTGTTTAGAGGCTGAGATTTTTGATATTGTCTTAATATTGGGGTTTCACTGTCCCCACCCAGGATCTCTCCTTTAAATTCATACACTCAGGATCTTCACTCAGGATCTGACAGTGAGTTTTTCTGTTTTCTTTATGTACTCAATAGCTGTGTGCTAGTAAGTCCCAGAATACTTAACTAGCTGTATGCATTTTGGCAATTAACTGCCTTGAATCCCAGTCTCCACATCTGCAAATGTGGAATAATAATTAGATCCTCCCAGGGTAAGTGAGAGGATTAAGGTGAAATGTATTCTGCAAAGCTCCCAGTGTAATGCCTGGCACATAGTAGATGCTCGATAAACAGTAGGAACTCTCAATCCCAATTGGAGGCATCTCCTTTGGAAGATCTTAAGTGTACCTTTCAAAATACTCTTATACTTTAAGGGCTTGGGTGAAACCAAATAGAGATAATACAGACCAAAATTGTTATCCCAGATGCTCTTCTGTCTAAACCCTGAGACTCAGCTTCAGTGTCATGGAAACAGACCCTCCAGCAGATGCCCACCACGTGTGTTTGCATTTCAGATGCCATCTCCATAACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCTAGGC
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Task1_train_13868
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A sequence alteration has been identified in GDF2 (growth differentiation factor 2) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 5
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ATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGCCCATGTCATCAAAGGACAGAGATAGCAAGTTCTATTCAGGCCCAGCCATTCAGGGGCTCCTGATTTCACCCATCCCCCTCTGCAATCTCTGACCGCAGCATGCTGTGGCCCCTCCTGCACCCCCCTAAACCTGCTCAGCTCTCTGCAGCCTCTCCCGGACAGCCTCACCAGCATAGAATACCTTCCCCAGAGTAAACCACCAGGCACAGCATACCCCAGAGTGTTTCTAACCATGATCCTTCTTTGCTTTGCTCAAAGCCACACGTGATGGAAATGGACAGAGTCTAAGTGTGGACATACTGCTCTTAACGCAGTCCCTGGGGCCCTTTCCTGGGCCACAGCTTATCAGCCTCCAAAGGCCAGGGGATCATCTTCTTGGCATGTACCACTCTCAGAACAACCCACCTACTCCCCTGTCTACCAGATTGCGTGGTTCTCCCTGCTGATGAGTGTGGGCCAGGTGGCTGCCAGGTTGGTGTGAGCTAAGACCACCCCACAACAGACCAGTGACACAGCTGGGATGCAGGGATGTGGGGAGCTCCCCACAGGCTGCAGTGTGTTGTGGAGCTCCGACAGAGCAGGCTGGGGGAACCCAGGGCTTCCTCCCCCAGCTCCAGCTCAATCAGGCCTGGGCTGGAGAGGGGGCATCCAGAATGCAGCCACCAAGCCAGCCTGGGGCACAGCATCCTCTTAACCCCTATAACTATCTTCTGAATGGGAGGCTCCAAGAGCTGCAGTGACTTGTTCCAGGTGACATTTGCAGGGAATCGGTGAGGGAGTTGAGATCCCAGCCTGTGTCTAGTTTGACTCATCACCGCACTAAATTGCACGGGAGCCATATTCACTCGTGATCTCTAATGCTCAGCAGTGCATCCCACCAACAGAGCAGGGAGGCTTGCTGGCAGGTTCCGATTCTGCAAGGAGCAGGCCTCTTCTGAGCCCTGATGTGGTCCCCACACTCTCCCCATCTCCCCAGCCCCCACGGTTCACTGTGATCTTGTGCTGTCCTTTCTATATTTGGAGGACTACTTGGTCTTGTTTCCTGGATTCTTCACTCCTGTGGCCCAGGAGATGGAGCATATGTCACCCTGCCTGGAGATTCTTCTGAAGAGCCCTGGCAAGGAAATGAGAAAGTATCCTAATTAGGGGGCAATAACCCCCTGGAGAAGCACAGATTCTTTACAGTAGGCCGTGTCCTTCCCGCATGCCCTGTGTGTTTGTCAGATGTTTATAGAGCCTTCATTAACGGAAGGCTCCCTCAGATAAGACGTCGGAGCGCGGCATCGAGGACCAGATAAGCACAAGTGGAGGACAATCCAGCCCGGCAGCGGGTGAGAGTGGGTGCTGGCCAGGACGGTTCCTTCAGAGCAAACAGCAGGGAGATGCCGGCCCGCTCCTTCCCAGCTCCTCCCCGTGCCCGCTAACACAGCACGGCCGCCTGCAGTCTCCTCTCTGGGTGATTGCGCGGGCCTAAGATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTACAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGAAACGCCCACAGCCCACTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAGAACGTGAAGGTGGATTTCCTGCGCAGCCTTAACCTGAGTGGGGTCCCTTCGCAGGACAAAACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAGTCGACTACGCCAGCGTCCAACATTGTGCGGAGCTTCAGCATGGAAGGTAGGGTCTCCGCTTGCACCATGCGCGCTGGGGTGGGACTCACAGGTCCACAGCTGCTTTCCCCAGGGTGGAGGCCACTGGCCATAGGAGGCTCTTCAAGCTTCCATTTAAATTAGTTACAATGAAATAAAATTAAAACTTATTTCTTTAGCCTCACCAGCTTCCTTTCAAATGCGTGGCTAATGGCTTCCCTATCAGGCAGTGCAGACTGAAGAACATTTCCATGGTTACTGAGAGTTCTACTCAGCACTTCTGTTGTGAAGGATTCACCTTCCCCAAGCTGTGTGCCACATTTCACACAGCAGGTGCACAGGGATGCCAGCTCTCTTTTTTCCACCCCTTCTCTTTACTCTCCTCTTCTTTGCATCACTCCCCTCTGATTCACTTCTCTTCCTTTCCCCCTTCCCTTCCTGTCCCCTTCCTACTTCAGAACAGAACAGGCAACCTATTTCACCTCCAACTAACTGGGATATTTTTAAATTTTCAAAGCACATCTATTCCTTTCTTATGAAACGGTTTTAAAAATCAGATAAAATTCTTGGACAGAGAAGTGTTGGCAGAGAACCTAATTGTTTTTAAATAGAAATATATCTGATTTAGAAGGACTAGAAGATAACAAACACGGACCTAGGACCTATGTCCTAACTCAGACAAGCTCACATGATGCAGGGGAAATAAGTTTCTGAAGAGCAAAACTGTTCAGTCAAAGCTTGCAGCCACCAAGGGTACCCACCCATGTCACCTAGGAAGTGTTAAGCCTGCACACCTAGGAAGTGTTAAACCTGTCTGCCTGCAGAGCTGGCTTTTCCTGCTGCTGCTGTCTCCCTCTGAATGTCCAGGAGCACAGAGCCTCTCCCTTCCTGGGTCTGAGACTTGCAAATGGCTAAGGGGCCTGGCTCCATACCACGCCCAGGCCAGACCTAACTGGTCTGCAGAGGCAGGACTGGCACTTCAAAACCTGCCAGCTAGGTTTCCCTATAGCACAGGGTCTCCACACATGTGGGTATATAGCAAGTGCTGAAAAAATGCAACCTCTTTTCCCTGTCTGTGAACCAGCCATTGTATAGCAGGAGCGTGCTAATGACAAAGTGTCAGCCCAGGATAAATGGGATATCGAGATAACTATGTGGCTAAAAGCCAAGCCCCATTTTTGCTTGACATGACAAAGCAATTGAAGCTAATAGATTTTGTTCCTGAAACACTAAAACCAATTATCCACTTTTGCTTTGTTTGGAAATTACAATTTCAAACGATTTATACACTGTTTAGAGGCTGAGATTTTTGATATTGTCTTAATATTGGGGTTTCACTGTCCCCACCCAGGATCTCTCCTTTAAATTCATACACTCAGGATCTTCACTCAGGATCTGACAGTGAGTTTTTCTGTTTTCTTTATGTACTCAATAGCTGTGTGCTAGTAAGTCCCAGAATACTTAACTAGCTGTATGCATTTTGGCAATTAACTGCCTTGAATCCCAGTCTCCACATCTGCAAATGTGGAATAATAATTAGATCCTCCCAGGGTAAGTGAGAGGATTAAGGTGAAATGTATTCTGCAAAGCTCCCAGTGTAATGCCTGGCACATAGTAGATGCTCGATAAACAGTAGGAACTCTCAATCCCAATTGGAGGCATCTCCTTTGGAAGATCTTAAGTGTACCTTTCAAAATACTCTTATACTTTAAGGGCTTGGGTGAAACCAAATAGAGATAATACAGACCAAAATTGTTATCCCAGATGCTCTTCTGTCTAAACCCTGAGACTCAGCTTCAGTGTCATGGAAACAGACCCTCCAGCAGATGCCCACCACGTGTGTTTGCATTTCAGATGCCATCTCCATAACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCTAGGCATGAGCAGATCACCAGAGCTGAGCTCCGACTCTATGTCTCCTGTCAAAATC
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ATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGCCCATGTCATCAAAGGACAGAGATAGCAAGTTCTATTCAGGCCCAGCCATTCAGGGGCTCCTGATTTCACCCATCCCCCTCTGCAATCTCTGACCGCAGCATGCTGTGGCCCCTCCTGCACCCCCCTAAACCTGCTCAGCTCTCTGCAGCCTCTCCCGGACAGCCTCACCAGCATAGAATACCTTCCCCAGAGTAAACCACCAGGCACAGCATACCCCAGAGTGTTTCTAACCATGATCCTTCTTTGCTTTGCTCAAAGCCACACGTGATGGAAATGGACAGAGTCTAAGTGTGGACATACTGCTCTTAACGCAGTCCCTGGGGCCCTTTCCTGGGCCACAGCTTATCAGCCTCCAAAGGCCAGGGGATCATCTTCTTGGCATGTACCACTCTCAGAACAACCCACCTACTCCCCTGTCTACCAGATTGCGTGGTTCTCCCTGCTGATGAGTGTGGGCCAGGTGGCTGCCAGGTTGGTGTGAGCTAAGACCACCCCACAACAGACCAGTGACACAGCTGGGATGCAGGGATGTGGGGAGCTCCCCACAGGCTGCAGTGTGTTGTGGAGCTCCGACAGAGCAGGCTGGGGGAACCCAGGGCTTCCTCCCCCAGCTCCAGCTCAATCAGGCCTGGGCTGGAGAGGGGGCATCCAGAATGCAGCCACCAAGCCAGCCTGGGGCACAGCATCCTCTTAACCCCTATAACTATCTTCTGAATGGGAGGCTCCAAGAGCTGCAGTGACTTGTTCCAGGTGACATTTGCAGGGAATCGGTGAGGGAGTTGAGATCCCAGCCTGTGTCTAGTTTGACTCATCACCGCACTAAATTGCACGGGAGCCATATTCACTCGTGATCTCTAATGCTCAGCAGTGCATCCCACCAACAGAGCAGGGAGGCTTGCTGGCAGGTTCCGATTCTGCAAGGAGCAGGCCTCTTCTGAGCCCTGATGTGGTCCCCACACTCTCCCCATCTCCCCAGCCCCCACGGTTCACTGTGATCTTGTGCTGTCCTTTCTATATTTGGAGGACTACTTGGTCTTGTTTCCTGGATTCTTCACTCCTGTGGCCCAGGAGATGGAGCATATGTCACCCTGCCTGGAGATTCTTCTGAAGAGCCCTGGCAAGGAAATGAGAAAGTATCCTAATTAGGGGGCAATAACCCCCTGGAGAAGCACAGATTCTTTACAGTAGGCCGTGTCCTTCCCGCATGCCCTGTGTGTTTGTCAGATGTTTATAGAGCCTTCATTAACGGAAGGCTCCCTCAGATAAGACGTCGGAGCGCGGCATCGAGGACCAGATAAGCACAAGTGGAGGACAATCCAGCCCGGCAGCGGGTGAGAGTGGGTGCTGGCCAGGACGGTTCCTTCAGAGCAAACAGCAGGGAGATGCCGGCCCGCTCCTTCCCAGCTCCTCCCCGTGCCCGCTAACACAGCACGGCCGCCTGCAGTCTCCTCTCTGGGTGATTGCGCGGGCCTAAGATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTACAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGAAACGCCCACAGCCCACTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAGAACGTGAAGGTGGATTTCCTGCGCAGCCTTAACCTGAGTGGGGTCCCTTCGCAGGACAAAACCAGGGTGGAGCTGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAGTCGACTACGCCAGCGTCCAACATTGTGCGGAGCTTCAGCATGGAAGGTAGGGTCTCCGCTTGCACCATGCGCGCTGGGGTGGGACTCACAGGTCCACAGCTGCTTTCCCCAGGGTGGAGGCCACTGGCCATAGGAGGCTCTTCAAGCTTCCATTTAAATTAGTTACAATGAAATAAAATTAAAACTTATTTCTTTAGCCTCACCAGCTTCCTTTCAAATGCGTGGCTAATGGCTTCCCTATCAGGCAGTGCAGACTGAAGAACATTTCCATGGTTACTGAGAGTTCTACTCAGCACTTCTGTTGTGAAGGATTCACCTTCCCCAAGCTGTGTGCCACATTTCACACAGCAGGTGCACAGGGATGCCAGCTCTCTTTTTTCCACCCCTTCTCTTTACTCTCCTCTTCTTTGCATCACTCCCCTCTGATTCACTTCTCTTCCTTTCCCCCTTCCCTTCCTGTCCCCTTCCTACTTCAGAACAGAACAGGCAACCTATTTCACCTCCAACTAACTGGGATATTTTTAAATTTTCAAAGCACATCTATTCCTTTCTTATGAAACGGTTTTAAAAATCAGATAAAATTCTTGGACAGAGAAGTGTTGGCAGAGAACCTAATTGTTTTTAAATAGAAATATATCTGATTTAGAAGGACTAGAAGATAACAAACACGGACCTAGGACCTATGTCCTAACTCAGACAAGCTCACATGATGCAGGGGAAATAAGTTTCTGAAGAGCAAAACTGTTCAGTCAAAGCTTGCAGCCACCAAGGGTACCCACCCATGTCACCTAGGAAGTGTTAAGCCTGCACACCTAGGAAGTGTTAAACCTGTCTGCCTGCAGAGCTGGCTTTTCCTGCTGCTGCTGTCTCCCTCTGAATGTCCAGGAGCACAGAGCCTCTCCCTTCCTGGGTCTGAGACTTGCAAATGGCTAAGGGGCCTGGCTCCATACCACGCCCAGGCCAGACCTAACTGGTCTGCAGAGGCAGGACTGGCACTTCAAAACCTGCCAGCTAGGTTTCCCTATAGCACAGGGTCTCCACACATGTGGGTATATAGCAAGTGCTGAAAAAATGCAACCTCTTTTCCCTGTCTGTGAACCAGCCATTGTATAGCAGGAGCGTGCTAATGACAAAGTGTCAGCCCAGGATAAATGGGATATCGAGATAACTATGTGGCTAAAAGCCAAGCCCCATTTTTGCTTGACATGACAAAGCAATTGAAGCTAATAGATTTTGTTCCTGAAACACTAAAACCAATTATCCACTTTTGCTTTGTTTGGAAATTACAATTTCAAACGATTTATACACTGTTTAGAGGCTGAGATTTTTGATATTGTCTTAATATTGGGGTTTCACTGTCCCCACCCAGGATCTCTCCTTTAAATTCATACACTCAGGATCTTCACTCAGGATCTGACAGTGAGTTTTTCTGTTTTCTTTATGTACTCAATAGCTGTGTGCTAGTAAGTCCCAGAATACTTAACTAGCTGTATGCATTTTGGCAATTAACTGCCTTGAATCCCAGTCTCCACATCTGCAAATGTGGAATAATAATTAGATCCTCCCAGGGTAAGTGAGAGGATTAAGGTGAAATGTATTCTGCAAAGCTCCCAGTGTAATGCCTGGCACATAGTAGATGCTCGATAAACAGTAGGAACTCTCAATCCCAATTGGAGGCATCTCCTTTGGAAGATCTTAAGTGTACCTTTCAAAATACTCTTATACTTTAAGGGCTTGGGTGAAACCAAATAGAGATAATACAGACCAAAATTGTTATCCCAGATGCTCTTCTGTCTAAACCCTGAGACTCAGCTTCAGTGTCATGGAAACAGACCCTCCAGCAGATGCCCACCACGTGTGTTTGCATTTCAGATGCCATCTCCATAACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCTAGGCATGAGCAGATCACCAGAGCTGAGCTCCGACTCTATGTCTCCTGTCAAAATC
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Task1_train_13869
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An alteration has been detected in RBP3 (retinol binding protein 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Retinitis pigmentosa
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TAATGAGCTAAAAATATGTTTGTTTTAGCTAATTGACCTCTTTGGCCTTCATAAAGCAGTTGGTAAACATCCTCAGATAATGATTTCCAAAGAGCAGATTGTGGGTCTCAGCTGTGTAGAGAAAGCCCACGTCCCTGAGACCACCTTCTCCAGCTGCCTACTGAGGCACACAGGGGCGCCTGCCTGCTGCCCGCTCAGCCAAGGCGGTGTTGCTGGAGCCAGCTTGGGACAGCTCTCCCAACGCTCTGCCCTGGCCTTGCGACCACTCTCTGGGCCGTAGTTGTCTGTCTGTTAAGTGAGGAAAGTGCCCATCTCCAGAGGCATTCAGCGGCAAAGCAGGGCTTCCAGGTTCCGACCCCATAGCAGGACTTCTTGGATTTCTACAGCCAGTCAGTTGCAAGCAGCACCCACATTATTTCTATAAGAAGTGGCAGGAGCTGGGATCTGAAGAGTTCAGCAGTCTACCTTTCCCTGTTTCTTGTGCTTTATGCAGTCAGGAGGAATGATCTGGATTCCATGTGAAGCCTGGGACCACGGAGACCCAAGACTTCCTGCTTGATTCTCCCTGCGAACTGCAGGCTGTGGGCTGAGCCTTCAAGAAGCAGGAGTCCCCTCTAGCCATTAACTCTCAGAGCTAACCTCATTTGAATGGGAACACTAGTCCTGTGATGTCTGGAAGGTGGGCGCCTCTACACTCCACACCCTACATGGTGGTCCAGACACATCATTCCCAGCATTAGAAAGCTGTAGGGGGACCCGTTCTGTTCCCTGGAGGCATTAAAGGGACATAGAAATAAATCTCAAGCTCTGAGGCTGATGCCAGCCTCAGACTCAGCCTCTGCACTGTATGGGCCAATTGTAGCCCCAAGGACTTCTTCTTGCTGCACCCCCTATCTGTCCACACCTAAAACGATGGGCTTCTATTAGTTACAGAACTCTCTGGCCTGTTTTGTTTTGCTTTGCTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTTTAGCTATGAAACAGAGGTAATATCTAATACAGATAACTTACCAGTAATGAGTGCTTCCTACTTACTGGGTACTGGGAAGAAGTGCTTTACACATATTTTCTCATTTAATCTACACAATAAGTAATTAAGACATTTCCCTGAGGCCACGGGAGAGACAGTGGCAGAACAGTTCTCCAAGGAGGACTTGCAAGTTAATAACTGGACTTTGCAAGGCTCTGGTGGAAACTGTCAGCTTGTAAAGGATGGAGCACAGTGTCTGGCATGTAGCAGGAACTAAAATAATGGCAGTGATTAATGTTATGATATGCAGACACAACACAGCAAGATAAGATGCAATGTACCTTCTGGGTCAAACCACCCTGGCCACTCCTCCCCGATACCCAGGGTTGATGTGCTTGAATTAGACAGGATTAAAGGCTTACTGGAGCTGGAAGCCTTGCCCCAACTCAGGAGTTTAGCCCCAGACCTTCTGTCCACCAGCTGAGAAGGACAAGGGCGGAAGGCAGCTGCACAGAGCAGGGCCACGGCCTTGCACACAGTCCAGGGAGCTTTTGTGCAGGAGCCAGGCCTCCCCCTGGGTCCCCATGATGAGAGAATGGGTTCTGCTCATGTCCGTGCTGCTCTGTGGCCTGGCTGGCCCCACACACCTGTTCCAGCCAAGCCTGGTGCTGGACATGGCCAAGGTCCTCTTGGATAACTACTGCTTCCCGGAGAACCTGCTGGGCATGCAGGAAGCCATCCAGCAGGCCATCAAGAGCCATGAGATTCTGAGCATCTCAGACCCGCAGACGCTGGCCAGTGTGCTGACAGCCGGGGTGCAGAGCTCCCTGAACGATCCTCGCCTGGTCATCTCCTATGAGCCCAGCACCCCCGAGCCTCCCCCACAAGTCCCAGCACTCACCAGCCTCTCAGAAGAGGAACTGCTTGCCTGGCTGCAAAGGGGCCTCCGCCATGAGGTTCTGGAGGGTAATGTGGGCTACCTGCGGGTGGACAGCGTCCCGGGCCAGGAGGTGCTGAGCATGATGGGGGAGTTCCTGGTGGCCCACGTGTGGGGGAATCTCATGGGCACCTCCGCCTTAGTGCTGGATCTCCGGCACTGCACAGGAGGCCAGGTCTCTGGCATTCCCTACATCATCTCCTACCTGCACCCAGGGAACACCATCCTGCACGTGGACACTATCTACAACCGCCCCTCCAACACCACCACGGAGATCTGGACCTTGCCCCAGGTCCTGGGAGAAAGGTACGGTGCCGACAAGGATGTGGTGGTCCTCACCAGCAGCCAGACCAGGGGCGTGGCCGAGGACATCGCGCACATCCTTAAGCAGATGCGCAGGGCCATCGTGGTGGGCGAGCGGACTGGGGGAGGGGCCCTGGACCTCCGGAAGCTGAGGATAGGCGAGTCTGACTTCTTCTTCACGGTGCCCGTGTCCAGGTCCCTGGGGCCCCTTGGTGGAGGCAGCCAGACGTGGGAGGGCAGCGGGGTGCTGCCCTGTGTGGGGACTCCGGCCGAGCAGGCCCTGGAGAAAGCCCTGGCCATCCTCACTCTGCGCAGCGCCCTTCCAGGGGTAGTCCACTGCCTCCAGGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCTACCTGCGCTTCGATAGTTTTGCTGACGCCTCCGTCCTGGGTGTGTTGGCCCCATATGTCCTGCGCCAGGTGTGGGAGCCGCTACAGGACACGGAGCACCTCATCATGGACCTGCGCCACAACCCTGGAGGGCCATCCTCTGCTGTGCCCCTGCTCCTGTCCTACTTCCAGGGCCCTGAGGCCGGCCCCGTGCACCTCTTCACCACCTATGATCGCCGCACCAACATCACGCAGGAGCACTTCAGCCACATGGAGCTCCCGGGCCCACGCTACAGCACCCAACGTGGGGTGTATCTGCTCACCAGCCACCGCACCGCCACGGCCGCGGAGGAGTTCGCCTTCCTTATGCAGTCGCTGGGCTGGGCCACACTGGTAGGTGAGATCACCGCGGGCAACCTGCTGCACACCCGCACGGTGCCGCTGCTGGACACACCCGAAGGCAGCCTCGCGCTCACCGTGCCGGTCCTCACCTTCATCGACAATCACGGCGAGGCCTGGCTGGGTGGTGGAGTGGTGCCCGATGCCATCGTGCTGGCCGAGGAGGCCCTGGACAAAGCCCAGGAAGTGCTGGAGTTCCACCAAAGCCTGGGGGCCTTGGTGGAGGGCACAGGGCACCTGCTGGAGGCCCACTATGCTCGGCCAGAGGTCGTGGGGCAGACCAGTGCCCTCCTGCGGGCCAAGCTGGCCCAGGGCGCCTACCGCACAGCTGTGGACTTGGAGTCTCTGGCCTCTCAGCTCACAGCAGACCTCCAGGAGGTGTCTGGGGACCACCGCTTGCTAGTGTTCCACAGCCCTGGCGAGCTGGTGGTAGAGGAAGCACCCCCACCACCCCCTGCTGTCCCCTCTCCAGAGGAGCTCACCTACCTTATTGAGGCCCTGTTCAAGACAGAGGTGCTGCCCGGCCAGCTGGGCTACCTGCGTTTTGACGCCATGGCTGAACTGGAGACAGTGAAGGCCGTGGGGCCACAGCTGGTGCGGCTGGTATGGCAACAGCTGGTGGACACGGCTGCGCTGGTGATCGACCTGCGCTACAACCCTGGCAGCTACTCCACGGCCATCCCGCTGCTCTGCTCCTACTTCTTTGAGGCAGAGCCCCGCCAGCACCTGTATTCTGTCTTTGACAGGGCCACCTCAAAAGTCACGGAGGTGTGGACCTTGCCCCAGGTCGCCGGCCAGCGCTACGGCTCACACAAG
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TAATGAGCTAAAAATATGTTTGTTTTAGCTAATTGACCTCTTTGGCCTTCATAAAGCAGTTGGTAAACATCCTCAGATAATGATTTCCAAAGAGCAGATTGTGGGTCTCAGCTGTGTAGAGAAAGCCCACGTCCCTGAGACCACCTTCTCCAGCTGCCTACTGAGGCACACAGGGGCGCCTGCCTGCTGCCCGCTCAGCCAAGGCGGTGTTGCTGGAGCCAGCTTGGGACAGCTCTCCCAACGCTCTGCCCTGGCCTTGCGACCACTCTCTGGGCCGTAGTTGTCTGTCTGTTAAGTGAGGAAAGTGCCCATCTCCAGAGGCATTCAGCGGCAAAGCAGGGCTTCCAGGTTCCGACCCCATAGCAGGACTTCTTGGATTTCTACAGCCAGTCAGTTGCAAGCAGCACCCACATTATTTCTATAAGAAGTGGCAGGAGCTGGGATCTGAAGAGTTCAGCAGTCTACCTTTCCCTGTTTCTTGTGCTTTATGCAGTCAGGAGGAATGATCTGGATTCCATGTGAAGCCTGGGACCACGGAGACCCAAGACTTCCTGCTTGATTCTCCCTGCGAACTGCAGGCTGTGGGCTGAGCCTTCAAGAAGCAGGAGTCCCCTCTAGCCATTAACTCTCAGAGCTAACCTCATTTGAATGGGAACACTAGTCCTGTGATGTCTGGAAGGTGGGCGCCTCTACACTCCACACCCTACATGGTGGTCCAGACACATCATTCCCAGCATTAGAAAGCTGTAGGGGGACCCGTTCTGTTCCCTGGAGGCATTAAAGGGACATAGAAATAAATCTCAAGCTCTGAGGCTGATGCCAGCCTCAGACTCAGCCTCTGCACTGTATGGGCCAATTGTAGCCCCAAGGACTTCTTCTTGCTGCACCCCCTATCTGTCCACACCTAAAACGATGGGCTTCTATTAGTTACAGAACTCTCTGGCCTGTTTTGTTTTGCTTTGCTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTTTAGCTATGAAACAGAGGTAATATCTAATACAGATAACTTACCAGTAATGAGTGCTTCCTACTTACTGGGTACTGGGAAGAAGTGCTTTACACATATTTTCTCATTTAATCTACACAATAAGTAATTAAGACATTTCCCTGAGGCCACGGGAGAGACAGTGGCAGAACAGTTCTCCAAGGAGGACTTGCAAGTTAATAACTGGACTTTGCAAGGCTCTGGTGGAAACTGTCAGCTTGTAAAGGATGGAGCACAGTGTCTGGCATGTAGCAGGAACTAAAATAATGGCAGTGATTAATGTTATGATATGCAGACACAACACAGCAAGATAAGATGCAATGTACCTTCTGGGTCAAACCACCCTGGCCACTCCTCCCCGATACCCAGGGTTGATGTGCTTGAATTAGACAGGATTAAAGGCTTACTGGAGCTGGAAGCCTTGCCCCAACTCAGGAGTTTAGCCCCAGACCTTCTGTCCACCAGCTGAGAAGGACAAGGGCGGAAGGCAGCTGCACAGAGCAGGGCCACGGCCTTGCACACAGTCCAGGGAGCTTTTGTGCAGGAGCCAGGCCTCCCCCTGGGTCCCCATGATGAGAGAATGGGTTCTGCTCATGTCCGTGCTGCTCTGTGGCCTGGCTGGCCCCACACACCTGTTCCAGCCAAGCCTGGTGCTGGACATGGCCAAGGTCCTCTTGGATAACTACTGCTTCCCGGAGAACCTGCTGGGCATGCAGGAAGCCATCCAGCAGGCCATCAAGAGCCATGAGATTCTGAGCATCTCAGACCCGCAGACGCTGGCCAGTGTGCTGACAGCCGGGGTGCAGAGCTCCCTGAACGATCCTCGCCTGGTCATCTCCTATGAGCCCAGCACCCCCGAGCCTCCCCCACAAGTCCCAGCACTCACCAGCCTCTCAGAAGAGGAACTGCTTGCCTGGCTGCAAAGGGGCCTCCGCCATGAGGTTCTGGAGGGTAATGTGGGCTACCTGCGGGTGGACAGCGTCCCGGGCCAGGAGGTGCTGAGCATGATGGGGGAGTTCCTGGTGGCCCACGTGTCGGGGAATCTCATGGGCACCTCCGCCTTAGTGCTGGATCTCCGGCACTGCACAGGAGGCCAGGTCTCTGGCATTCCCTACATCATCTCCTACCTGCACCCAGGGAACACCATCCTGCACGTGGACACTATCTACAACCGCCCCTCCAACACCACCACGGAGATCTGGACCTTGCCCCAGGTCCTGGGAGAAAGGTACGGTGCCGACAAGGATGTGGTGGTCCTCACCAGCAGCCAGACCAGGGGCGTGGCCGAGGACATCGCGCACATCCTTAAGCAGATGCGCAGGGCCATCGTGGTGGGCGAGCGGACTGGGGGAGGGGCCCTGGACCTCCGGAAGCTGAGGATAGGCGAGTCTGACTTCTTCTTCACGGTGCCCGTGTCCAGGTCCCTGGGGCCCCTTGGTGGAGGCAGCCAGACGTGGGAGGGCAGCGGGGTGCTGCCCTGTGTGGGGACTCCGGCCGAGCAGGCCCTGGAGAAAGCCCTGGCCATCCTCACTCTGCGCAGCGCCCTTCCAGGGGTAGTCCACTGCCTCCAGGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCTACCTGCGCTTCGATAGTTTTGCTGACGCCTCCGTCCTGGGTGTGTTGGCCCCATATGTCCTGCGCCAGGTGTGGGAGCCGCTACAGGACACGGAGCACCTCATCATGGACCTGCGCCACAACCCTGGAGGGCCATCCTCTGCTGTGCCCCTGCTCCTGTCCTACTTCCAGGGCCCTGAGGCCGGCCCCGTGCACCTCTTCACCACCTATGATCGCCGCACCAACATCACGCAGGAGCACTTCAGCCACATGGAGCTCCCGGGCCCACGCTACAGCACCCAACGTGGGGTGTATCTGCTCACCAGCCACCGCACCGCCACGGCCGCGGAGGAGTTCGCCTTCCTTATGCAGTCGCTGGGCTGGGCCACACTGGTAGGTGAGATCACCGCGGGCAACCTGCTGCACACCCGCACGGTGCCGCTGCTGGACACACCCGAAGGCAGCCTCGCGCTCACCGTGCCGGTCCTCACCTTCATCGACAATCACGGCGAGGCCTGGCTGGGTGGTGGAGTGGTGCCCGATGCCATCGTGCTGGCCGAGGAGGCCCTGGACAAAGCCCAGGAAGTGCTGGAGTTCCACCAAAGCCTGGGGGCCTTGGTGGAGGGCACAGGGCACCTGCTGGAGGCCCACTATGCTCGGCCAGAGGTCGTGGGGCAGACCAGTGCCCTCCTGCGGGCCAAGCTGGCCCAGGGCGCCTACCGCACAGCTGTGGACTTGGAGTCTCTGGCCTCTCAGCTCACAGCAGACCTCCAGGAGGTGTCTGGGGACCACCGCTTGCTAGTGTTCCACAGCCCTGGCGAGCTGGTGGTAGAGGAAGCACCCCCACCACCCCCTGCTGTCCCCTCTCCAGAGGAGCTCACCTACCTTATTGAGGCCCTGTTCAAGACAGAGGTGCTGCCCGGCCAGCTGGGCTACCTGCGTTTTGACGCCATGGCTGAACTGGAGACAGTGAAGGCCGTGGGGCCACAGCTGGTGCGGCTGGTATGGCAACAGCTGGTGGACACGGCTGCGCTGGTGATCGACCTGCGCTACAACCCTGGCAGCTACTCCACGGCCATCCCGCTGCTCTGCTCCTACTTCTTTGAGGCAGAGCCCCGCCAGCACCTGTATTCTGTCTTTGACAGGGCCACCTCAAAAGTCACGGAGGTGTGGACCTTGCCCCAGGTCGCCGGCCAGCGCTACGGCTCACACAAG
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Task1_train_13870
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An alteration has been detected in RBP3 (retinol binding protein 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Retinitis pigmentosa
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GGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCTACCTGCGCTTCGATAGTTTTGCTGACGCCTCCGTCCTGGGTGTGTTGGCCCCATATGTCCTGCGCCAGGTGTGGGAGCCGCTACAGGACACGGAGCACCTCATCATGGACCTGCGCCACAACCCTGGAGGGCCATCCTCTGCTGTGCCCCTGCTCCTGTCCTACTTCCAGGGCCCTGAGGCCGGCCCCGTGCACCTCTTCACCACCTATGATCGCCGCACCAACATCACGCAGGAGCACTTCAGCCACATGGAGCTCCCGGGCCCACGCTACAGCACCCAACGTGGGGTGTATCTGCTCACCAGCCACCGCACCGCCACGGCCGCGGAGGAGTTCGCCTTCCTTATGCAGTCGCTGGGCTGGGCCACACTGGTAGGTGAGATCACCGCGGGCAACCTGCTGCACACCCGCACGGTGCCGCTGCTGGACACACCCGAAGGCAGCCTCGCGCTCACCGTGCCGGTCCTCACCTTCATCGACAATCACGGCGAGGCCTGGCTGGGTGGTGGAGTGGTGCCCGATGCCATCGTGCTGGCCGAGGAGGCCCTGGACAAAGCCCAGGAAGTGCTGGAGTTCCACCAAAGCCTGGGGGCCTTGGTGGAGGGCACAGGGCACCTGCTGGAGGCCCACTATGCTCGGCCAGAGGTCGTGGGGCAGACCAGTGCCCTCCTGCGGGCCAAGCTGGCCCAGGGCGCCTACCGCACAGCTGTGGACTTGGAGTCTCTGGCCTCTCAGCTCACAGCAGACCTCCAGGAGGTGTCTGGGGACCACCGCTTGCTAGTGTTCCACAGCCCTGGCGAGCTGGTGGTAGAGGAAGCACCCCCACCACCCCCTGCTGTCCCCTCTCCAGAGGAGCTCACCTACCTTATTGAGGCCCTGTTCAAGACAGAGGTGCTGCCCGGCCAGCTGGGCTACCTGCGTTTTGACGCCATGGCTGAACTGGAGACAGTGAAGGCCGTGGGGCCACAGCTGGTGCGGCTGGTATGGCAACAGCTGGTGGACACGGCTGCGCTGGTGATCGACCTGCGCTACAACCCTGGCAGCTACTCCACGGCCATCCCGCTGCTCTGCTCCTACTTCTTTGAGGCAGAGCCCCGCCAGCACCTGTATTCTGTCTTTGACAGGGCCACCTCAAAAGTCACGGAGGTGTGGACCTTGCCCCAGGTCGCCGGCCAGCGCTACGGCTCACACAAGGACCTCTACATCCTGATGAGCCACACCAGTGGCTCTGCGGCCGAGGCCTTTGCACACACCATGCAGGACCTGCAGCGGGCCACGGTCATTGGGGAGCCCACGGCCGGAGGCGCACTCTCTGTGGGCATCTACCAGGTGGGCAGCAGCCCCTTATATGCATCCATGCCCACCCAGATGGCCATGAGTGCCACCACAGGCAAGGCCTGGGACCTGGCTGGTGTGGAGCCCGACATCACTGTGCCCATGAGCGAAGCCCTTTCCATAGCCCAGGACATAGTGGCTCTGCGTGCCAAGGTGCCCACGGTGCTGCAGACGGCCGGGAAGCTGGTGGCTGATAACTATGCCTCTGCCGAGCTGGGGGCCAAGATGGCCACCAAACTGAGCGGTCTGCAGAGCCGCTACTCCAGGGTGACCTCAGAAGTGGCCCTAGCCGAGATCCTGGGGGCTGACCTGCAGATGCTCTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAATGGCAAAACCCGCAATTACTTTTGCACCCACCTCACAGGAAGCCAGTTTGAAAGCCAACCAATACTCACAGGAAGCCAGTTCGGAAGCTCCTGGGATAGAAGGCATTTCAGCCTTGGCTGGGTGGAAGGTGAGTGTTGGCAGGGCTTCTCATTGTCAGTGCTAGGGAAGAGGCCAACACCTGTCAGAGGTGGCCAATGGACTTCACCAAGTGCCCCACGCTGGCCGAGAGCTCCACCTAGGCAGCACTCACACCTCCACACTGTTCTACCTGTGGTCTGCTGCATCGTCACAATTGGGCAGGGCAGCATTTGCCATGGGATCCCTTGCAAGGAGGGTCTGAGACCAGGGCTTGGGTGCAGGCGCTTTGTCTGGGAGGCGGTTACTGAAGCAGGCATGAAGGAGGGAGCAGGGAGAGTGGGTTGGGAAGCTGACAGGCAGGTGCCTCAAAGCTGTTCTGCTGAAGCCAGGACCCTGACGAGTGCAGGGATGCTCCCAGGCATAGCCCTCTGCAGGCAGGGCCCAGTGGTTCCTGTCCCGCATTGGCCAAGAGTTGCCCTGAGACATGCCTCAGGGTGGGGCAGGCTCCCTCTTCTTGGAGAAGGCCTGAGCTACGGGTGGAAAGGCAGGGCTGTGCTATAGGAGAGCCTGTCAGTGGGGTCGGGTGCAGCTGAAAGCAGAGGGGGCTGAGAGTGCCAAAAGCATCTACTACAGAATTGTTATCCCCATTTTCCGCAACTGAGGCCCGGAGAGGAGCAGAGGGGAGTGGCCTGAGGCCAGAGAGCTGTGACTGAGGGCAGGGCAGGGCCTGGAGGGCAGTGTCTCTGTCAATGAAGTCTCCTTGCCTGTCAATCTCACCAAGACCTGCCTCCCTCCAGCAGCCTTAGAGAGGGAGGAGGAGGTGCATCCACGTGCGAGTAGCCTGTGCTAGGCTTGCAGAATCCCCAGTTTCCAAATCAACATCTCCTTCCTTTCCAGTATAGCCAAGGTTCACGATTTGGAGTCAGATGTGGATTCAGATTCTGGCTCCACCACTTACTGACTGTGTGACCTGAGACTAGTTACTTAATCTCTCTGTGCTTCAGTTTTTCCATGGAAAAGATGGGGATCGTGTTATCTCCTGTACAGGTGGCTGTGAGGATGATGATAAGCTCTACAAAGTGCTTAGTACCGGGCCAGGTGCCTGGTAAAGGTAACTAACATCTTCCAATCCTGCCCCAGTGGAGCAGCTTAGAGACATAGGAAGTATCTGGTAAGGTTGGAGAGGTCAGAGGGGAGTCCATTCCTGGGCCTTCTAGCTCAGGACACCAGGGCATGTGGGTGGCAGACAGGAGCATCCTCTGCAAGGAGGCTGCCCATAGATCACACATGTCCCAGTGGCATGTCACATCCAGACATGCCACTGGGAAAGTCCCTGGTGTCTACTAATTCCTTCAGAAATGTTAGTTCCTGTCCCATGCCCTTAATATTTCCCATGGCGCCTGCTTTCCTGGGCTCTAAAACTGGCTGCTCCTCCTGACACTGAGTAGGACCTCCAACTCTTACAGATCCCTTCCCCTGAAGTATTTGAAGAGCTGATCAAGTTTTCCTTCCACACTAACGTGCTTGAGGACAACATTGGCTACTTGAGGTTTGACATGTTTGGGGACGGTGAGCTGCTCACCCAGGTCTCCAGGCTGCTGGTGGAGCACATCTGGAAGAAGATCATGCACACGGATGCCATGATCATCGACATGAGGTCAGTGGCCAGGGGTCAGTGCTTCCTAGCCAGGACGCAGGGCTGCCAGGGGACAGTCAAAGCTAT
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GGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCTACCTGCGCTTCGATAGTTTTGCTGACGCCTCCGTCCTGGGTGTGTTGGCCCCATATGTCCTGCGCCAGGTGTGGGAGCCGCTACAGGACACGGAGCACCTCATCATGGACCTGCGCCACAACCCTGGAGGGCCATCCTCTGCTGTGCCCCTGCTCCTGTCCTACTTCCAGGGCCCTGAGGCCGGCCCCGTGCACCTCTTCACCACCTATGATCGCCGCACCAACATCACGCAGGAGCACTTCAGCCACATGGAGCTCCCGGGCCCACGCTACAGCACCCAACGTGGGGTGTATCTGCTCACCAGCCACCGCACCGCCACGGCCGCGGAGGAGTTCGCCTTCCTTATGCAGTCGCTGGGCTGGGCCACACTGGTAGGTGAGATCACCGCGGGCAACCTGCTGCACACCCGCACGGTGCCGCTGCTGGACACACCCGAAGGCAGCCTCGCGCTCACCGTGCCGGTCCTCACCTTCATCGACAATCACGGCGAGGCCTGGCTGGGTGGTGGAGTGGTGCCCGATGCCATCGTGCTGGCCGAGGAGGCCCTGGACAAAGCCCAGGAAGTGCTGGAGTTCCACCAAAGCCTGGGGGCCTTGGTGGAGGGCACAGGGCACCTGCTGGAGGCCCACTATGCTCGGCCAGAGGTCGTGGGGCAGACCAGTGCCCTCCTGCGGGCCAAGCTGGCCCAGGGCGCCTACCGCACAGCTGTGGACTTGGAGTCTCTGGCCTCTCAGCTCACAGCAGACCTCCAGGAGGTGTCTGGGGACCACCGCTTGCTAGTGTTCCACAGCCCTGGCGAGCTGGTGGTAGAGGAAGCACCCCCACCACCCCCTGCTGTCCCCTCTCCAGAGGAGCTCACCTACCTTATTGAGGCCCTGTTCAAGACAGAGGTGCTGCCCGGCCAGCTGGGCTACCTGCGTTTTGACGCCATGGCTGAACTGGAGACAGTGAAGGCCGTGGGGCCACAGCTGGTGCGGCTGGTATGGCAACAGCTGGTGGACACGGCTGCGCTGGTGATCGACCTGCGCTACAACCCTGGCAGCTACTCCACGGCCATCCCGCTGCTCTGCTCCTACTTCTTTGAGGCAGAGCCCCGCCAGCACCTGTATTCTGTCTTTGACAGGGCCACCTCAAAAGTCACGGAGGTGTGGACCTTGCCCCAGGTCGCCGGCCAGCGCTACGGCTCACACAAGGACCTCTACATCCTGATGAGCCACACCAGTGGCTCTGCGGCCGAGGCCTTTGCACACACCATGCAGGACCTGCAGCGGGCCACGGTCATTGGGGAGCCCACGGCCGGAGGCGCACTCTCTGTGGGCATCTACCAGGTGGGCAGCAGCCCCTTATATGCATCCATGCCCACCCAGATGGCCATGAGTGCCACCACAGGCAAGGCCTGGGACCTGGCTGGTGTGGAGCCCGACATCACTGTGCCCATGAGCGAAGCCCTTTCCATAGCCCAGGACATAGTGGCTCTGCGTGCCAAGGTGCCCACGGTGCTGCAGACGGCCGGGAAGCTGGTGGCTGATAACTATGCCTCTGCCGAGCTGGGGGCCAAGATGGCCACCAAACTGAGCGGTCTGCAGAGCCGCTACTCCAGGGTGACCTCAGAAGTGGCCCTAGCCGAGATCCTGGGGGCTGACCTGCAGATGCTCTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCAAGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAATGGCAAAACCCGCAATTACTTTTGCACCCACCTCACAGGAAGCCAGTTTGAAAGCCAACCAATACTCACAGGAAGCCAGTTCGGAAGCTCCTGGGATAGAAGGCATTTCAGCCTTGGCTGGGTGGAAGGTGAGTGTTGGCAGGGCTTCTCATTGTCAGTGCTAGGGAAGAGGCCAACACCTGTCAGAGGTGGCCAATGGACTTCACCAAGTGCCCCACGCTGGCCGAGAGCTCCACCTAGGCAGCACTCACACCTCCACACTGTTCTACCTGTGGTCTGCTGCATCGTCACAATTGGGCAGGGCAGCATTTGCCATGGGATCCCTTGCAAGGAGGGTCTGAGACCAGGGCTTGGGTGCAGGCGCTTTGTCTGGGAGGCGGTTACTGAAGCAGGCATGAAGGAGGGAGCAGGGAGAGTGGGTTGGGAAGCTGACAGGCAGGTGCCTCAAAGCTGTTCTGCTGAAGCCAGGACCCTGACGAGTGCAGGGATGCTCCCAGGCATAGCCCTCTGCAGGCAGGGCCCAGTGGTTCCTGTCCCGCATTGGCCAAGAGTTGCCCTGAGACATGCCTCAGGGTGGGGCAGGCTCCCTCTTCTTGGAGAAGGCCTGAGCTACGGGTGGAAAGGCAGGGCTGTGCTATAGGAGAGCCTGTCAGTGGGGTCGGGTGCAGCTGAAAGCAGAGGGGGCTGAGAGTGCCAAAAGCATCTACTACAGAATTGTTATCCCCATTTTCCGCAACTGAGGCCCGGAGAGGAGCAGAGGGGAGTGGCCTGAGGCCAGAGAGCTGTGACTGAGGGCAGGGCAGGGCCTGGAGGGCAGTGTCTCTGTCAATGAAGTCTCCTTGCCTGTCAATCTCACCAAGACCTGCCTCCCTCCAGCAGCCTTAGAGAGGGAGGAGGAGGTGCATCCACGTGCGAGTAGCCTGTGCTAGGCTTGCAGAATCCCCAGTTTCCAAATCAACATCTCCTTCCTTTCCAGTATAGCCAAGGTTCACGATTTGGAGTCAGATGTGGATTCAGATTCTGGCTCCACCACTTACTGACTGTGTGACCTGAGACTAGTTACTTAATCTCTCTGTGCTTCAGTTTTTCCATGGAAAAGATGGGGATCGTGTTATCTCCTGTACAGGTGGCTGTGAGGATGATGATAAGCTCTACAAAGTGCTTAGTACCGGGCCAGGTGCCTGGTAAAGGTAACTAACATCTTCCAATCCTGCCCCAGTGGAGCAGCTTAGAGACATAGGAAGTATCTGGTAAGGTTGGAGAGGTCAGAGGGGAGTCCATTCCTGGGCCTTCTAGCTCAGGACACCAGGGCATGTGGGTGGCAGACAGGAGCATCCTCTGCAAGGAGGCTGCCCATAGATCACACATGTCCCAGTGGCATGTCACATCCAGACATGCCACTGGGAAAGTCCCTGGTGTCTACTAATTCCTTCAGAAATGTTAGTTCCTGTCCCATGCCCTTAATATTTCCCATGGCGCCTGCTTTCCTGGGCTCTAAAACTGGCTGCTCCTCCTGACACTGAGTAGGACCTCCAACTCTTACAGATCCCTTCCCCTGAAGTATTTGAAGAGCTGATCAAGTTTTCCTTCCACACTAACGTGCTTGAGGACAACATTGGCTACTTGAGGTTTGACATGTTTGGGGACGGTGAGCTGCTCACCCAGGTCTCCAGGCTGCTGGTGGAGCACATCTGGAAGAAGATCATGCACACGGATGCCATGATCATCGACATGAGGTCAGTGGCCAGGGGTCAGTGCTTCCTAGCCAGGACGCAGGGCTGCCAGGGGACAGTCAAAGCTAT
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Task1_train_13871
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This variant affects gene RBP3 (retinol binding protein 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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CTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAATGGCAAAACCCGCAATTACTTTTGCACCCACCTCACAGGAAGCCAGTTTGAAAGCCAACCAATACTCACAGGAAGCCAGTTCGGAAGCTCCTGGGATAGAAGGCATTTCAGCCTTGGCTGGGTGGAAGGTGAGTGTTGGCAGGGCTTCTCATTGTCAGTGCTAGGGAAGAGGCCAACACCTGTCAGAGGTGGCCAATGGACTTCACCAAGTGCCCCACGCTGGCCGAGAGCTCCACCTAGGCAGCACTCACACCTCCACACTGTTCTACCTGTGGTCTGCTGCATCGTCACAATTGGGCAGGGCAGCATTTGCCATGGGATCCCTTGCAAGGAGGGTCTGAGACCAGGGCTTGGGTGCAGGCGCTTTGTCTGGGAGGCGGTTACTGAAGCAGGCATGAAGGAGGGAGCAGGGAGAGTGGGTTGGGAAGCTGACAGGCAGGTGCCTCAAAGCTGTTCTGCTGAAGCCAGGACCCTGACGAGTGCAGGGATGCTCCCAGGCATAGCCCTCTGCAGGCAGGGCCCAGTGGTTCCTGTCCCGCATTGGCCAAGAGTTGCCCTGAGACATGCCTCAGGGTGGGGCAGGCTCCCTCTTCTTGGAGAAGGCCTGAGCTACGGGTGGAAAGGCAGGGCTGTGCTATAGGAGAGCCTGTCAGTGGGGTCGGGTGCAGCTGAAAGCAGAGGGGGCTGAGAGTGCCAAAAGCATCTACTACAGAATTGTTATCCCCATTTTCCGCAACTGAGGCCCGGAGAGGAGCAGAGGGGAGTGGCCTGAGGCCAGAGAGCTGTGACTGAGGGCAGGGCAGGGCCTGGAGGGCAGTGTCTCTGTCAATGAAGTCTCCTTGCCTGTCAATCTCACCAAGACCTGCCTCCCTCCAGCAGCCTTAGAGAGGGAGGAGGAGGTGCATCCACGTGCGAGTAGCCTGTGCTAGGCTTGCAGAATCCCCAGTTTCCAAATCAACATCTCCTTCCTTTCCAGTATAGCCAAGGTTCACGATTTGGAGTCAGATGTGGATTCAGATTCTGGCTCCACCACTTACTGACTGTGTGACCTGAGACTAGTTACTTAATCTCTCTGTGCTTCAGTTTTTCCATGGAAAAGATGGGGATCGTGTTATCTCCTGTACAGGTGGCTGTGAGGATGATGATAAGCTCTACAAAGTGCTTAGTACCGGGCCAGGTGCCTGGTAAAGGTAACTAACATCTTCCAATCCTGCCCCAGTGGAGCAGCTTAGAGACATAGGAAGTATCTGGTAAGGTTGGAGAGGTCAGAGGGGAGTCCATTCCTGGGCCTTCTAGCTCAGGACACCAGGGCATGTGGGTGGCAGACAGGAGCATCCTCTGCAAGGAGGCTGCCCATAGATCACACATGTCCCAGTGGCATGTCACATCCAGACATGCCACTGGGAAAGTCCCTGGTGTCTACTAATTCCTTCAGAAATGTTAGTTCCTGTCCCATGCCCTTAATATTTCCCATGGCGCCTGCTTTCCTGGGCTCTAAAACTGGCTGCTCCTCCTGACACTGAGTAGGACCTCCAACTCTTACAGATCCCTTCCCCTGAAGTATTTGAAGAGCTGATCAAGTTTTCCTTCCACACTAACGTGCTTGAGGACAACATTGGCTACTTGAGGTTTGACATGTTTGGGGACGGTGAGCTGCTCACCCAGGTCTCCAGGCTGCTGGTGGAGCACATCTGGAAGAAGATCATGCACACGGATGCCATGATCATCGACATGAGGTCAGTGGCCAGGGGTCAGTGCTTCCTAGCCAGGACGCAGGGCTGCCAGGGGACAGTCAAAGCTATGGGCCACAGCAGGGAAGAAAAGGAACCCTGTGACACAGCAGAGGACCTGAGGGGGGCCAGGCCTCCTGCCTATCAGGGCTTCGGCCAGCTAGCCCAGCAGATCTGCTGTCATTGCAGGTGGGGCCCAGCACTGGTAGTTTTTGCAAGCTTCTCCAGTGATTCCAATGTGCATTCCAGATTGAGAATTACCCCAGATTTGCCTGGTCATAGGATTCAGTGGGGAGGAGAGGAAGGAGATGTTAAAAACACTGATTCCTGGGCCCCACTCCCCTCTTACTGACTCAGAAGCTCCAGGGGACAGGCCCGATAATCTCTATTTGACAGGCATCCCAGGTGATTCTGATGGTCAGTGGTGTGTGAGACAGCCAGGCCCCCCACCTGGGAGTGTGCCTCACATCATACAAAATCAACACATGACAACCCTGGTCATATGAATCGTACAGGCAGAATTTGGAAATCACACAGGGAAAATTTAGAAGTTAATCACTATTGTTAACAAAAGAATTCTTTGCATCACCAAATGATTGTCAGAAGGATGTCTTCAGCTAGCCACCTCCCCTCTGTTTCTGTAAAAATGTGCCTCATATGTCATGAGTTTACCTCATGGACCAGGGGTAGGAGGTGGATGAGTACCCTCAGGCAGTGGCCAGACCTGGCATCCCATGACTCTGGGGTCCATTGGTGGACATGCCCCAGCACCCTCCCTGGGCAGGTTGCCTTCCTCAGACGGGACCCTTCCATGCTCCCGTGTTGTCTGAAAGAAGTGGCAGGGGGTGGCAGACCAGAAGCATTCACCCAGCTCCAGTTCTCTAGCCCTCAGCGCTCACTCACATGGTTCTTAGTGGTCACTAGGTGGCTCTCGGTCCTGCACCCACTGCTTCTCCTCCCTGGGAGATAAAACATTAGCCCTGGCTCCAGTTCTGTGTGTGTTCACAGCCTGAGCTTGAGGCTCCTGGGGTCTCTCTGATCATTTTATTCTTTAGAAGTTCTGTTGAGCACCCAAATGACACTCATGCTAAGTCTCTTTCTTCTGAATATGCCATTTACACTTTTTAAAGAGGAGATGGCCCCAGCCTGCAAGTGCACTTTGCTTAAAGACCCTCCCACCCCTGAGGTTTGTTTGGAGGTTCAGACACTGACATCACAGGCCCCGAACCCAGCCAGGCCATCCCAGGCCATCAGTTGGACGAGGCTCCTTAACACATCACTAGCCCCAGTGGGGAGACAGGGGCCCAACGAGGTCACACAGTGGGACAAATCTAAATGGCCTGGGAGAAATACAGGCTCCCCTGCTCCCAATGCAGCTCCACAAGCCTGAATATTTCAATACACTAAGTGCCCTGTTAAGACACCTGAACTAAGACAGCTGGTAGGTGTCATAAGATTGTCACAGAATGCAACGGGAAAAACAATGTTTCCCAAAATGTGTTCCACTCATAGGAAGATATGGGTGCAGGGGAGCAGTCCATGGTCAATAAATGGGGGAAATTTATCAACAAGTTTCTGACTGCAGGACTTGTCAGGGCCTTTAATATATTAACATGTATTAATTACATAGCAGAAGGAAAGGATAACATATTTGATCACTAAGTTTCTTGTTCTAAAGAGACTAGTACTCTTGGAAATACTCTGGAAAATGCCAACCCATGGAATTCTAAAGGAGGAAGAGGCACTAGACTGAGGCTGCCAAGAATTAGAACCCTCCATGGGACAAAGATCCTGGCCTCCCCGAGGGGCACACAGGGCCTCACTGTGAGCTCAGCCCCTGAACAGGCTCTGCTTCCCATCCTTCAGGTTCAACATCGGTGGCCCCACATCCTCCATTCCCATCTTGTGCTCCTACTTCTTTGATGAAGGCCCTCCAGTTCTGCTGGACAAGATCTACAGCCGGCCTGATGACTCTGTCAGTGAACTCTGGACACACGCCCAGGTTGTAGGTACGTGGAGAAGCTTTCTCCTTTCTGCTGTCATTCT
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CTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAATGGCAAAACCCGCAATTACTTTTGCACCCACCTCACAGGAAGCCAGTTTGAAAGCCAACCAATACTCACAGGAAGCCAGTTCGGAAGCTCCTGGGATAGAAGGCATTTCAGCCTTGGCTGGGTGGAAGGTGAGTGTTGGCAGGGCTTCTCATTGTCAGTGCTAGGGAAGAGGCCAACACCTGTCAGAGGTGGCCAATGGACTTCACCAAGTGCCCCACGCTGGCCGAGAGCTCCACCTAGGCAGCACTCACACCTCCACACTGTTCTACCTGTGGTCTGCTGCATCGTCACAATTGGGCAGGGCAGCATTTGCCATGGGATCCCTTGCAAGGAGGGTCTGAGACCAGGGCTTGGGTGCAGGCGCTTTGTCTGGGAGGCGGTTACTGAAGCAGGCATGAAGGAGGGAGCAGGGAGAGTGGGTTGGGAAGCTGACAGGCAGGTGCCTCAAAGCTGTTCTGCTGAAGCCAGGACCCTGACGAGTGCAGGGATGCTCCCAGGCATAGCCCTCTGCAGGCAGGGCCCAGTGGTTCCTGTCCCGCATTGGCCAAGAGTTGCCCTGAGACATGCCTCAGGGTGGGGCAGGCTCCCTCTTCTTGGAGAAGGCCTGAGCTACGGGTGGAAAGGCAGGGCTGTGCTATAGGAGAGCCTGTCAGTGGGGTCGGGTGCAGCTGAAAGCAGAGGGGGCTGAGAGTGCCAAAAGCATCTACTACAGAATTGTTATCCCCATTTTCCGCAACTGAGGCCCGGAGAGGAGCAGAGGGGAGTGGCCTGAGGCCAGAGAGCTGTGACTGAGGGCAGGGCAGGGCCTGGAGGGCAGTGTCTCTGTCAATGAAGTCTCCTTGCCTGTCAATCTCACCAAGACCTGCCTCCCTCCAGCAGCCTTAGAGAGGGAGGAGGAGGTGCATCCACGTGCGAGTAGCCTGTGCTAGGCTTGCAGAATCCCCAGTTTCCAAATCAACATCTCCTTCCTTTCCAGTATAGCCAAGGTTCACGATTTGGAGTCAGATGTGGATTCAGATTCTGGCTCCACCACTTACTGACTGTGTGACCTGAGACTAGTTACTTAATCTCTCTGTGCTTCAGTTTTTCCATGGAAAAGATGGGGATCGTGTTATCTCCTGTACAGGTGGCTGTGAGGATGATGATAAGCTCTACAAAGTGCTTAGTACCGGGCCAGGTGCCTGGTAAAGGTAACTAACATCTTCCAATCCTGCCCCAGTGGAGCAGCTTAGAGACATAGGAAGTATCTGGTAAGGTTGGAGAGGTCAGAGGGGAGTCCATTCCTGGGCCTTCTAGCTCAGGACACCAGGGCATGTGGGTGGCAGACAGGAGCATCCTCTGCAAGGAGGCTGCCCATAGATCACACATGTCCCAGTGGCATGTCACATCCAGACATGCCACTGGGAAAGTCCCTGGTGTCTACTAATTCCTTCAGAAATGTTAGTTCCTGTCCCATGCCCTTAATATTTCCCATGGCGCCTGCTTTCCTGGGCTCTAAAACTGGCTGCTCCTCCTGACACTGAGTAGGACCTCCAACTCTTACAGATCCCTTCCCCTGAAGTATTTGAAGAGCTGATCAAGTTTTCCTTCCACACTAACGTGCTTGAGGACAACATTGGCTACTTGAGGTTTGACATGTTTGGGGACGGTGAGCTGCTCACCCAGGTCTCCAGGCTGCTGGTGGAGCACATCTGGAAGAAGATCATGCACACGGATGCCATGATCATCAACATGAGGTCAGTGGCCAGGGGTCAGTGCTTCCTAGCCAGGACGCAGGGCTGCCAGGGGACAGTCAAAGCTATGGGCCACAGCAGGGAAGAAAAGGAACCCTGTGACACAGCAGAGGACCTGAGGGGGGCCAGGCCTCCTGCCTATCAGGGCTTCGGCCAGCTAGCCCAGCAGATCTGCTGTCATTGCAGGTGGGGCCCAGCACTGGTAGTTTTTGCAAGCTTCTCCAGTGATTCCAATGTGCATTCCAGATTGAGAATTACCCCAGATTTGCCTGGTCATAGGATTCAGTGGGGAGGAGAGGAAGGAGATGTTAAAAACACTGATTCCTGGGCCCCACTCCCCTCTTACTGACTCAGAAGCTCCAGGGGACAGGCCCGATAATCTCTATTTGACAGGCATCCCAGGTGATTCTGATGGTCAGTGGTGTGTGAGACAGCCAGGCCCCCCACCTGGGAGTGTGCCTCACATCATACAAAATCAACACATGACAACCCTGGTCATATGAATCGTACAGGCAGAATTTGGAAATCACACAGGGAAAATTTAGAAGTTAATCACTATTGTTAACAAAAGAATTCTTTGCATCACCAAATGATTGTCAGAAGGATGTCTTCAGCTAGCCACCTCCCCTCTGTTTCTGTAAAAATGTGCCTCATATGTCATGAGTTTACCTCATGGACCAGGGGTAGGAGGTGGATGAGTACCCTCAGGCAGTGGCCAGACCTGGCATCCCATGACTCTGGGGTCCATTGGTGGACATGCCCCAGCACCCTCCCTGGGCAGGTTGCCTTCCTCAGACGGGACCCTTCCATGCTCCCGTGTTGTCTGAAAGAAGTGGCAGGGGGTGGCAGACCAGAAGCATTCACCCAGCTCCAGTTCTCTAGCCCTCAGCGCTCACTCACATGGTTCTTAGTGGTCACTAGGTGGCTCTCGGTCCTGCACCCACTGCTTCTCCTCCCTGGGAGATAAAACATTAGCCCTGGCTCCAGTTCTGTGTGTGTTCACAGCCTGAGCTTGAGGCTCCTGGGGTCTCTCTGATCATTTTATTCTTTAGAAGTTCTGTTGAGCACCCAAATGACACTCATGCTAAGTCTCTTTCTTCTGAATATGCCATTTACACTTTTTAAAGAGGAGATGGCCCCAGCCTGCAAGTGCACTTTGCTTAAAGACCCTCCCACCCCTGAGGTTTGTTTGGAGGTTCAGACACTGACATCACAGGCCCCGAACCCAGCCAGGCCATCCCAGGCCATCAGTTGGACGAGGCTCCTTAACACATCACTAGCCCCAGTGGGGAGACAGGGGCCCAACGAGGTCACACAGTGGGACAAATCTAAATGGCCTGGGAGAAATACAGGCTCCCCTGCTCCCAATGCAGCTCCACAAGCCTGAATATTTCAATACACTAAGTGCCCTGTTAAGACACCTGAACTAAGACAGCTGGTAGGTGTCATAAGATTGTCACAGAATGCAACGGGAAAAACAATGTTTCCCAAAATGTGTTCCACTCATAGGAAGATATGGGTGCAGGGGAGCAGTCCATGGTCAATAAATGGGGGAAATTTATCAACAAGTTTCTGACTGCAGGACTTGTCAGGGCCTTTAATATATTAACATGTATTAATTACATAGCAGAAGGAAAGGATAACATATTTGATCACTAAGTTTCTTGTTCTAAAGAGACTAGTACTCTTGGAAATACTCTGGAAAATGCCAACCCATGGAATTCTAAAGGAGGAAGAGGCACTAGACTGAGGCTGCCAAGAATTAGAACCCTCCATGGGACAAAGATCCTGGCCTCCCCGAGGGGCACACAGGGCCTCACTGTGAGCTCAGCCCCTGAACAGGCTCTGCTTCCCATCCTTCAGGTTCAACATCGGTGGCCCCACATCCTCCATTCCCATCTTGTGCTCCTACTTCTTTGATGAAGGCCCTCCAGTTCTGCTGGACAAGATCTACAGCCGGCCTGATGACTCTGTCAGTGAACTCTGGACACACGCCCAGGTTGTAGGTACGTGGAGAAGCTTTCTCCTTTCTGCTGTCATTCT
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Task1_train_13872
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Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not specified
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ATAAGAGAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCACCTCTGTGGCATTCCTACCAAAAAAAAAATGTATGCATAGATGGGTGTGTGTGTGAATGATAAAGCAAAAGCTGAAAAATGTTAATAACTTAGATAAAGGATATAGGAGAGTTCTTCGTATTATTCCAACTGATTTTTTTTTGAGACCCAACTGATTTAAGTTTGAAATTACTTCAAAATATGAAATTAACAAAAAAATTAACCATGCTAAATAAAAGTCTTTCTGAAATGCTACACATAAACCTGCCTTCTTAAACTGAGTACCATAAGCAGCAATCTTTGGTAACTCAAGGCCATCACATTGTGAACACAGTGACTGCTAAGGGATCACTAAGCAGGGCTATCTATATACTCCATGGTCTTGAGCAATTGTTGAGTCTACATCTCCTAACTTTTCTCCCTTGACATAAGCTATCAGCTTTCATACTTCTAGAATGTCTGTCTCTAGCCACACGCTTGTCCCTCTCCCTTATGATGTTACTTTAATCTCCTGTGGTTGGAAAATCAGATTAATGTAGCATATAGCATGTAAAGTAACTGCCTACTAATGTTCAGGTAGTACACATCGATTTAAGAATTGCACACCTCCCATGAGTGGCCATAAGTACTATTGTTTTCCAAAGTTTCAAATTATTCTAGGTCTTCAGAAAAGAGGTGTAAATACGATTTTTAAAATGTCAATATATTTCAAATCTAAATTTTTGAAGAAAAACACTAATGGCTGACAGCCCTCTATGCACCATCAGTTAAAGACTGCTACTGCTAGAAACAGCCTACTCATTTTCTAATCCTAGCATCCCTGTGGCAAACGTATCAAATGGATTACCTGATTTTTTGAAAAGCTTTTCCAAAACATAATCGTCATTGCTCTGTTCCTTGGCCTCACTCTTGTTTTCACTGTCTTGCTTCTGGTAACGCCTTTTCTTCACCAGGTGTGGAATTCGAGTTCCTTCAAACTTGGCGTCTCTGCAATGCTTAGAGTTCTTAGGCTTTTGCTTTGGTCTCAGATGTTTCTCCAGGGTCTCTTCTTCTGCCACACTATGATGTTTTGTTTTTGACTTGTGCTTATAAAAATTATTTTCCATTTGTTTATTCTCCCAAAAAGCTTCTGTTTGAGCCTGGCTGGGTCTTTCTCTTTTGTAAGAAAGACCTAACTTTTCATCAATGCTTTCATCACCAGATGGCATAGAAGTTTTGCCTGTTCCTGAAGAATTTGAACATTCCCCATTTCCACTAATCACTGACAACTCTTCTGGTCCAGATACTGCATTTGTCTCTTCTCCAAGCCTATCATTGCTAGTTACATTACTACTCATGTGAGGGTCATCTTTCAAAGGATCACTTCGATTAGAAGTTACTGCATTTACTTCAGCTCCTTTAGCCTCAGATTTCTCTTCAGATGATGTGGCATCATTTACAGATATGTTAGAAGCAGGGAACTTCTTGCGTTTTGGAACATCATGGTCTGCTCCAAAGGCTGGTTGAATCCTTCTTTTTAGATGGCATTTGGGTGTCTGAACATCTGATCCAGTTCCTGTAAAGAGGAAAAACACCACTAATACTATATTGTATCATCTTGTGCAATTGATTACTTTAAATTAAATGATTTTATGTAATACCTGCAAAAATTGCACTTGTTTCAGTGCTCTGGGATGCATCAGGACTAGTCAGAGTAAATAGCTCATAGAGATCATTGGATTTGAAAAACCGCCTTTGTTTTGGGTCTTTTAGCACTCTATTTGTCAAAAACTGCTTGAAGATTTGTCTAAAAAAATAAAAGATAAGCTGGTATAAAACAATGTGTAGCTCTACCTAAAAATTCAAGTTATAAAGCAATATAAGAGAGAGATGATAACAGCTGCTGCATGAATGGCTAAATAATCCCCCAAACTTTCAGCCTTGGAAAATTACAATTCAGGAAATATATAATACATCAGTTAATCTCCCAGGTCTTGCAGAATTTAAATTAGAAATAATACCTTATTATTTACACCGAATGAGCTTTTTCAACCTCCAAGATCTAACACATTTCAAGAAACACCTTTTCACATGCCATCATGTGACTCATAGTCTCTCTTAGCCTCCTTGACTTGAATACCAAGGGTCCTGCCCTGCCTAGAACCTTCCTATCATAGGGCTCAGCAAACTCTCTTACCTGGGCTTTGCAATGTCTCCACTCTGACCTCTCTCTCCCTGCTCCCACCTGCAGGTCCACACTCTGCTGAAGCCCCACACCACTGCCACTCTGGAACAGGCACCTCCACCAGCCACCCTGTCCCTCCCTGTCATTTATTCTCCCAGCTAAAGCATGAATCTATAAAAGGAAGCTCTCTTCTCACAGGATCCAACTCGTCCTCCACCCTCACACAACACTCCCTCGAGGAAGATGTAATGTTCCAGGAATGGCCCAGCATGTGGTAAAGGGCACAGAGCTTCCTATAAAAGCTGGGCTATGGCTCAAGGATAAAGTCTGTGGTGGGGGAGTGGGAGAAGCTGGCAATGTCTTGATTCTACTGTTGAAGTTACCACTGTCTAAAATCCCCTAGTCATTATGGAAAGACAGAGGACGAAACAGCCATCCTGTCGACTTCTTTGTAAGGGGCATCAGAGTCAAAGACTGCCAGAACACCCACACTGATCCTACCTGCATAATGTGGTATGTAAACACCAATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCC
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ATAAGAGAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCACCTCTGTGGCATTCCTACCAAAAAAAAAATGTATGCATAGATGGGTGTGTGTGTGAATGATAAAGCAAAAGCTGAAAAATGTTAATAACTTAGATAAAGGATATAGGAGAGTTCTTCGTATTATTCCAACTGATTTTTTTTTGAGACCCAACTGATTTAAGTTTGAAATTACTTCAAAATATGAAATTAACAAAAAAATTAACCATGCTAAATAAAAGTCTTTCTGAAATGCTACACATAAACCTGCCTTCTTAAACTGAGTACCATAAGCAGCAATCTTTGGTAACTCAAGGCCATCACATTGTGAACACAGTGACTGCTAAGGGATCACTAAGCAGGGCTATCTATATACTCCATGGTCTTGAGCAATTGTTGAGTCTACATCTCCTAACTTTTCTCCCTTGACATAAGCTATCAGCTTTCATACTTCTAGAATGTCTGTCTCTAGCCACACGCTTGTCCCTCTCCCTTATGATGTTACTTTAATCTCCTGTGGTTGGAAAATCAGATTAATGTAGCATATAGCATGTAAAGTAACTGCCTACTAATGTTCAGGTAGTACACATCGATTTAAGAATTGCACACCTCCCATGAGTGGCCATAAGTACTATTGTTTTCCAAAGTTTCAAATTATTCTAGGTCTTCAGAAAAGAGGTGTAAATACGATTTTTAAAATGTCAATATATTTCAAATCTAAATTTTTGAAGAAAAACACTAATGGCTGACAGCCCTCTATGCACCATCAGTTAAAGACTGCTACTGCTAGAAACAGCCTACTCATTTTCTAATCCTAGCATCCCTGTGGCAAACGTATCAAATGGATTACCTGATTTTTTGAAAAGCTTTTCCAAAACATAATCGTCATTGCTCTGTTCCTTGGCCTCACTCTTGTTTTCACTGTCTTGCTTCTGGTAACGCCTTTTCTTCACCAGGTGTGGAATTCGAGTTCCTTCAAACTTGGCGTCTCTGCAATGCTTAGAGTTCTTAGGCTTTTGCTTTGGTCTCAGATGTTTCTCCAGGGTCTCTTCTTCTGCCACACTATGATGTTTTGTTTTTGACTTGTGCTTATAAAAATTATTTTCCATTTGTTTATTCTCCCAAAAAGCTTCTGTTTGAGCCTGGCTGGGTCTTTCTCTTTTGTAAGAAAGACCTAACTTTTCATCAATGCTTTCATCACCAGATGGCATAGAAGTTTTGCCTGTTCCTGAAGAATTTGAACATTCCCCATTTCCACTAATCACTGACAACTCTTCTGGTCCAGATACTGCATTTGTCTCTTCTCCAAGCCTATCATTGCTAGTTACATTACTACTCATGTGAGGGTCATCTTTCAAAGGATCACTTCGATTAGAAGTTACTGCATTTACTTCAGCTCCTTTAGCCTCAGATTTCTCTTCAGATGATGTGGCATCATTTACAGATATGTTAGAAGCAGGGAACTTCTTGCGTTTTGGAACATCATGGTCTGCTCCAAAGGCTGGTTGAATCCTTCTTTTTAGATGGCATTTGGGTGTCTGAACATCTGATCCAGTTCCTGTAAAGAGGAAAAACACCACTAATACTATATTGTATCATCTTGTGCAATTGATTACTTTAAATTAAATGATTTTATGTAATACCTGCAAAAATTGCACTTGTTTCAGTGCTCTGGGATGCATCAGGACTAGTCAGAGTAAATAGCTCATAGAGATCATTGGATTTGAAAAACCGCCTTTGTTTTGGGTCTTTTGGCACTCTATTTGTCAAAAACTGCTTGAAGATTTGTCTAAAAAAATAAAAGATAAGCTGGTATAAAACAATGTGTAGCTCTACCTAAAAATTCAAGTTATAAAGCAATATAAGAGAGAGATGATAACAGCTGCTGCATGAATGGCTAAATAATCCCCCAAACTTTCAGCCTTGGAAAATTACAATTCAGGAAATATATAATACATCAGTTAATCTCCCAGGTCTTGCAGAATTTAAATTAGAAATAATACCTTATTATTTACACCGAATGAGCTTTTTCAACCTCCAAGATCTAACACATTTCAAGAAACACCTTTTCACATGCCATCATGTGACTCATAGTCTCTCTTAGCCTCCTTGACTTGAATACCAAGGGTCCTGCCCTGCCTAGAACCTTCCTATCATAGGGCTCAGCAAACTCTCTTACCTGGGCTTTGCAATGTCTCCACTCTGACCTCTCTCTCCCTGCTCCCACCTGCAGGTCCACACTCTGCTGAAGCCCCACACCACTGCCACTCTGGAACAGGCACCTCCACCAGCCACCCTGTCCCTCCCTGTCATTTATTCTCCCAGCTAAAGCATGAATCTATAAAAGGAAGCTCTCTTCTCACAGGATCCAACTCGTCCTCCACCCTCACACAACACTCCCTCGAGGAAGATGTAATGTTCCAGGAATGGCCCAGCATGTGGTAAAGGGCACAGAGCTTCCTATAAAAGCTGGGCTATGGCTCAAGGATAAAGTCTGTGGTGGGGGAGTGGGAGAAGCTGGCAATGTCTTGATTCTACTGTTGAAGTTACCACTGTCTAAAATCCCCTAGTCATTATGGAAAGACAGAGGACGAAACAGCCATCCTGTCGACTTCTTTGTAAGGGGCATCAGAGTCAAAGACTGCCAGAACACCCACACTGATCCTACCTGCATAATGTGGTATGTAAACACCAATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCC
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Task1_train_13873
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A variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Cockayne syndrome type 2
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13874
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A variant was discovered in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Lung cancer
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13875
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This genomic variant is located on Chromosome 10, within the ERCC6 (ERCC excision repair 6, chromatin remodeling factor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Cockayne syndrome type 2
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13876
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Here is a mutation in ERCC6 (ERCC excision repair 6, chromatin remodeling factor) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; DE SANCTIS-CACCHIONE SYNDROME
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13877
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Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Premature ovarian failure 11
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13878
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Consider a variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor). Determine its clinical classification and disease relevance.
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Pathogenic; Age related macular degeneration 5
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13879
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Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Cerebrooculofacioskeletal syndrome 1
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13880
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This alteration occurs within gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; UV-sensitive syndrome 1
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCATATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCACAGCCAAGAGTGGCCACTGTGTGCACTGACCGGTGGTAGATCTTTTCTTCAATGGTGCCCGCAGTCAGGAGCCTGTACACAGTCACTTGCTTCTTCTGGCCTATTCTCCATGCTCGCTCCCGGGCCTGCAACAGAGAGAGAGAGACCTCTCAACGAGAATCCTTCCCAATGACAAGCACTGACTATAAGAAACAAAGCTAGCTGGTCACTACCTGTCACTCCCAGAGTTAGAATTTTGACTCATGACGTCAAGTACACCTAAGGCCTACTCAGGAAGATGAACAGCCAGTTGAAAAGACATCTCTACTTGAAAAAATGTTTGTAACTTTGCCTATGTTCTTTTTACCCCAACTCTAGGAATGAATGCTATGGATAAACTGCTGAAGATGGTTCCTGTCCATTTGACTCTGAAGGGTGTCTTCTTTCACGTTGAAGAACAGGAGACAATCAAAATGTGAAACGTATGCTGAAGCCAACCAGAACATCAAAGGACAGTCAAAAGCGCTAACCATGAAACTATATTTCTACTAATACATTCTTTTAAAAAAAAAATAAAAACAAACCTGCGTGTCCGTGCTTGGGTTCCAGTCTGGGTCATAGATGACAACTCTGTTTGCCCCCGTCAGGTTGACACCTAAGCCGCCCACCCGCGTGGTCAGAAGAAACACAAATATGGATGTGTCCTAGAGGTAAGACACACAACACTGAGCACACACACTTAAGACCAGTTACAGTTCTCAGCCTCTGCCTCCACATATTGTACACATGGAATTACTGGGCTGTTCCCAATATAAGGAATGGTAATGTCCTAGAGACCTCTGGTGAATCAAAATCTCATTTCACAGCTTTTACTTTTAATATTTAATAGAAATATTTAAAAATTGGGTTTTTAGGAGGAAAATACATGCTGTAGAAAACGCATTCTTTGTTTGAACATACACATGCCCACAATCCCCGCCCCCAAATATCCAGAAGTAGGGCATAGAGTTAAAAACAACAAGTCTCCCCTTAGGCCCCCTCCCAAGCCCAGATGTCAATGCTGCTTTGGTGGGTAAGGGTGTGGATACGCTTAGTCCTTTCCCTCCACGTACAGCAGCACCACTCAACTTCCCTGTTACATTCACATGTTACCTCATTGTATCTCGTAATCAGTGGCTGTCTTGAAGCTATTGTAGTGGTACCATCCATCTTGAGATAGGTATACTTTTGGGCTCTAAGGAATACTTCAAGTATGTCCAGCATCTGTTTGGAGGTGGGGGATAGGAGTTTGCAAAGCAAATACACATTCCCAGTGAGTGCTTCTCTATTTGTGTAAATGGTAACACCTTCCCCAACAGGCCTATGTTAAAAGGAGTTTCTTGCTTTAGGACAGATAAACAGAACTGTTAAAAGAGTATTTTTGGTATTTCCGTATGGTTAATTCTTACTTTTGTAAACAGCCAAAGCTCAGGCCTAAACTTACTTGCAGACTAGAATCACATGGTGAGCTTTTTTAAAAAGTCAACTTTTAGACACCAACTCTAGAGAAAGATCTAAACTCCCAAAGAAATCGGTAGACTGCCACCTCAGCATCAGTGGTAGACTTGCTTCAGAATCATTACTTTAGATTGAATCCCATTTTGTGAGTTGATGGCTGTCATAAAGAACCAGCCTGTTTCCCGTCTGAAGTCTGTGCACTCACCTGCCTTGACTGAGAAAACAGCAATACTCGCTGACCCTGCTTGTGCCTTATTTTCAACAAAGACTCAACAACAATCATTTTCCCAGAACGTTTCCAGTACCCAAACTGATCTTCTTCTAGTTCATCATCAGGAAGACCTTTGAGATTCTTGGGACCTCCAGAAAAGAGATCAGGGTGGTTGCAAATTTTTCTTAGGGCTATAAGTCCGGAGAAAATCTGTGGTAAGAAAGAGTACATGTACACTCAGATGACCCCATGTAAAGTAAGATTCCCTAGGCAAGGAGGCTGTTTAACCTATAACACAGACTAAAAAACAGTTCTCCACCAGCTTCTTAGTTTCTTCTCTAGTCACAGCATTATCATGAGCTGGGAGAAATTAACTTTCACTCATCTTGTTTCCCTGATAGAACAAGTTCTCAGAAACAAAAAAATTCTACTGGACTGAACACGTCTACAGGGGTCATATTCAATTGCTGATAATTCATTTTCCCTCACTAGAAAAAAGGTATGCAGTTCACGGTATTATAAACCTAATATAAAAAAGGAATTCGCCTTTTAAATATGGATCAGAAATGTCCTATCAACCTAAATTTGGAGACATCAGTCATGTGACTTATCAAATGCATTTAAATATTACACTCCTAATTACCTCACTAAAAGTTCTGCAGTTTAATATGAGTCAGAGGTTGAGGATCCATTTACCTTTAGATTATTATTATATCAGAAAAAAAACTGCATGAAAAATGCACGAATAGGAATGCACGAATGGGAAAGATATGGTCCATGCAGAAGGGCACAGAAGACAAGGGGTGAGTGCCCCGGCCCATCCCCACAAAAGAACATTAACAAAACTTCAATAATGGGGCTCTTCCAGCCTTGAGAGGATGATTCAAATCAAACTCACTGGTCTAAAAGCTTGAGCAGAGGAGAAATCACCATTAAGCCAATAATCAAAGGGTAGGGTAGCTATCACTAGTAAACAACAGTAAACAGATTAACAATAAATGATCTGAATAAGTCAGGAACATTGGTAAACCTCCCCAGAGTCATCCGTGACTCATTCTTCTTCCTTTCAATCTGCACTGTCCAATGCAGTAGTCACTAGTCACACGTGGCTACTGAGCACATGAAGTGTGGCTAGTCCAAATTGTGATGTGCTGCATATGTAAAATACATACCCAATTTCGAAGACAGAACAAAAAAGGAGTAAAATATCTTTTTAATCATTTTTAATTTTTGATTACATATTAAAATGTATTTTAGATATATGAAATAAAATATATATCAAAATTAATTTCACCTGTTTCTCTTTTTCCTTTTTAATGTGACTACTAGAAAATTTACAATTCCAAGTGTAGTTTGCATTCCCTTTCCTGGATAGTGTGATCTAGACCCCCTAACTTGGAAAGACCTGAAGAAGTTAAGGGGAGATTCATGGAGATGAATAGATGTGAATGACTGAAGAACCTCCTGTAGCAACCAATAAGAAATGAAATAAGAAATTGTGAGAGATGGTTAAAAGAACTGAAATGACCTAATCACACTCACATTATTTATACAATAGAGTCTTTTGGAGAAGACACTAGCTAGGAACTTCTGAATTCTGGACACTAGTAGAAAGAGAGCTTTCTCAGTATTGAAAGGAACAGAATCACCATAAATAAATTACTGTCCTACCCTGGGGACAATGAGAATTAGAGCCAGGGACATTTGAACCAGATTTATATCTGGTTCCTAACATGGCAATGGTTCATAAACATTTATTGGGGAATGGGGCTCCTTTAGGAAGCTGATGAAAGTTATGAATCCTCATGATCCTCTCCACAAGATATATAATTCTGGTCATAATATCTGGGAAAATGCAGCTATGTACCTGACACCCGCCCACCTACCAGGTAAGACCCTCGGAAGTAACAGTAACTGCACAGCTCGCAGCTGCATTTGCGTCTGGGTTCAGATCCACAGCACACAGCTCTGCAACTTTCCACCTTTCACCAGTTACCTACTCCTCTGCACCTTACGGCTCCAGGCCATAGGCTGACTGCACATCTACCATGCGGGACTTCATGCAAGTGAAGTGAGATGACAGTACGTG
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Task1_train_13881
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This is a variant in ERCC6 (ERCC excision repair 6, chromatin remodeling factor), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Cerebrooculofacioskeletal syndrome 1
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TAATTTCAAAAAAAAAATTAACAGAAATAATTAAAATATCAACAAAACTTCCTGATCAAAAGAGCACAATGCATGCGATTTTAATGATATCCCTATTATTAATATTAAAACAACAAAGGGTGACAATACTTCTCACCATACCCTGCTCACCAGCCCCTCCATCTCTGTCACTTGTCTACCTCCAGGGCCCATCCCACAGTCCCCAAAGACTGGCTTCCTGCTCACGGGCAAGTTCAGTGCCCAGGTGCACAGACCATCCTCCACGTTAGCCTCCAAGTGCTCAAACCATCCCACCTCCCATGACCCATGCCATGCTCTACTCGGCAGACCTGACCAGAGACCACAACCTCACCTGGAGCTCTCCCTCTCCTGGAGCTCTAAGTGCAGGCCCATGAGTTACCAGACTTGCCTTGGACGGCAACCCTTACCCTCCCAGCCCACTGCACCAACCACTCCATGCGATCGTGCTCTGTGACCCTTCACCTCTCAACCCTCCCTCCTTCGCAAAGTCCACCACCGCCAGTTACATTCCCACGGATGCTCATTTAGCCACCCCTCTGCCACCTACCTGGACCCCTTTCAACCCCCTGCATCTTCCCTGTAAACATCCAAAGGTAGGTCAACTCAACCATCAGTCTTCTGCAGACCTATGGTCAGTGCCGGTGCTGCTGGAGAAAAGCTCATACATGGCAGCATCCTGCCATGGCCTGTCCTGCTCCAGGGGGTCCTCTACGCATGCCCGCCCAGCATCTTCCACAAGCCCAGAGCAACTGTGCCCATGCTCCTCACCACCCAAGCCACCCGCAACTCTGTCTCAACTTCTACTTAAAAACAATCAGACAAATAAAAACAAAATGAAAATCAAACCTGAACCTACCAGGATCAGGCATGATTCCCTGGTTTTCACTCCCTAACATGTCTCTACTTCTGCATCCACCTCATTTTCCTTTATTCCCAGAGGAAGAGGTTCTTGTACAGGATGGAGGGCAACCCTTCCACCTCTGCACTGTATCTGAAGACCCACTCATTCTCCCCAGTACAGTGCCTCACCCATTAGCCTCCAAGTGGAAGATGGGGGCATTCCTGAGAAAATTAGGTACCATCCCCACCTCCACTTCCTCACCTCCAGTCACTCCTGAAGCCCGCACCCAGAGCAAGCCTCACGGGCACCTCTGTTGATGCCACTGAGGCATCACTCATGACTTCCTAGTGGCCAAACACACTGGGTCCTTTCCAGGTCACCCTACTCACCTTCCGATGCCCAGGTCTTCACTTCTGTTCATGCACCTGTCTGTGCCAGCCTCCCCAGTCTTCCCAGCTAGCTCCTCCTCTTCTACCCTCCTCCTTGCTCCCAGCCCTGACCACACTGGCCTCCCTGCTGTCTATGAAGGCCCCAAAGCACTGCCACAGCTCACCATCTGCAATGCTCTGCCTTCAAAACCTACAAGACTTGCTCCTTCGCCTTCTTTAGGCCTCTGCTCAGGTGTCAGTTCATCAAAGGTCTTCTCTGACCAACCCTTACAAATGGCCCACTTCCCCAAATCCTTGCCCTCAGCATTCCCAGCTTATCCTTCAACCCTGCTTCATTTGTCTCCACACTTAATGCTGCCACCTGACATCTTCTATACCTTTTTGTGACACTCTCCCTCAAGAATAAATGTGAGTCCCCATGAGAACAAAACTTGCTTTGTTCACTGCTGTATCTCAGAGCCTAGGATCACGACAGGCATATGGTTGGCACCTAATACAATTTGTAGCATGAATGAATTAGGGGCTTAAGGAGAATGGAGATGTTTAAAAGAGTAGCTATAGGAATCCATGTGTCAGTAAGAGGGAGGTCAAAGCCTGTGGACTAGAGAAGAATCCACTGAGGGCAGACGCCACAGCGGGCCTAGCCTGCCCACAGTTCCAGGATCATACCTCACCAGACTCTCTCATCCGCAGAGGAGAATCAGAGTGAAGGGAAAGACACACTTGTGCTTTAGGAATGCTTCGTTAACTCCTGGATTTACAGACCTGTTCATTTTTATCTGGCAAAGAAAGGCTCATCTTGACATCTGACTTCATTCTCCGCAGTAGGTATGGATTTATGGTATCTCGTAAGACACATGCACACTTGTAAGCAGTTTTGACCTTTAATAAGAGCAGAGAAGGGAACATTACTATATATGTTTAAGGAACGCATTTGTTCTTACCTCTCAATTGCTTCCATTCCTTAAAAAAAAAAAAAGAATAACCAACAGCTGTATAAAGTCAGTGGGAAATGATTGCAAAATGGTTTGAAAAAGCTAGCATAAGTTCCATATACTCCAAGGGGTGGTAGCTTTCATAATATTATCAGTTAAAAAAATTATCTCATTAACCAAAATGTACAACAAAAGAAAAACTGATAATTTTGTGCCTTATTTCTCTTATACACTTTCCTTTAATTATTACTATACAGTTAAACCCTAAAGTAGAGACTTACTGGGTTCTTGACCACCAGCCCTAGGGGAAAAACTGCTTTTGTACAAATCTCTGTTTATGATCTTGTATTCTCCAAAAGCTACAAAGGAACTCTGCAAAGCTGAAGATCAAAAGCTAACTCTGGGGAAAAGCTACAGTGATGGAGCAGCCAGCCAATAAGCAGAGATTACTGTCCACTGGAGACTTACAAGAGTAAGTTCAACAAGAGCCCTCTGATCCCAGAAACGAAAGGTCACTCTGCCCTAAAATGCAGCATATGGTTCTGTAATGGAGCACGGCCACATGAGATGAGTACTAAATATACGCAAAAAAAAAAAGCCCCACAGCCCAGAAAACCACTCCCTCTGCAATTCACTTACAGGCAAAGTAGTCAATAAATTATTGCTACTTCAAAAAAAATCTAAATAGGCTTAACAACTTAGTAAATTACTATTTCATGGAAAAAATTCCAACCAAAGTTTAAATTTAAGAAAGTCAGCTGTAAAATGAATGATAATAAAAAAGAGCTTGACCACACACACAGAAAAAAAAGTTAAAAAATTAACTTGTTAAAAAATGTTCTTAAAGAACGCTAAAAATACCTCACTCATGCACATATATGTATGTGTGTGTATCTGTTGTATGAATGCATGTGCGTAAATATTAAAATAGGCTTTACTTTGAATAATACATAAAAAAGAAGCTCAACTAATCAATGACTTTTAGTTATATATAACTCCTTAAATATATCATTCAGACTGATGAATATCACCTTGAAGATGATGATGAGGTACATATTATGATTTCTGATGCAGAGATGATGAAATTTCAGAATTTAAAAACATAGTCCCACTGAGGAAGCACGAATGTACAGTCTATAAAGAAAACTGCCCCCACATCCTCCCTCCACCCACACCCCCTTCCGCAGAAGAGCGAGCATGCTGGTTGGAGGTGCTGGTCAACTAAACCAGGGCTAGGCTGGGGAACGGCCGGGCTGTGGCTCCTGCTCTCTCCTGCATGCCACCCCATGGAGATGATCTTCTGTTTCACTCCCAACTGGCTCCCAGTCTGTTCCTCTATTCATAAAAACACAAGGTGGGGATTCAGCTAGATTTCTCTACCAATGCTCACATCCCAGTGCTGTGGAAAACAGACAACTTGCTGAGCATGCCCATGCTCCTTCCCATTCTGACAAGGCAGAGCTCTGCCTCTTCCTGAGCACAGTGACCTTAGGCAAGTCACCAGAACGCTGAGAATCAAAAACCTTGCATGTGGAATAAAGAGGGTCAACTAGGCGTCCCTGCAGGCTCTTCTCAGTTCTCACATGCCCTGCCCCAGCTGAGCACACCAACCCCAGCAGCAGTCTATATTTGGGCTGCTGACATGCTCCCCATCACCTTCCTCACCTTTCAGGCCCCAGGTGAGTCATCCCTTCTCCGAGAAGCCTTTCTGAGCCCCATAAGCTCTGACACTGGGCATCTCCCCTGATCACAGTCCTCACTGCCCTGTACTGGGACCAGGTTTATTTGCCATTTTCCCCTGTGCCCACCCCTACTGGACTGGAAATACCTTCATGGGAAGGTTCTGGTTTCTAGCCCCTGCCATCATTTTAGCACCAGCATGACAGAATAAATACCGGCACACAGACTAT
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TAATTTCAAAAAAAAAATTAACAGAAATAATTAAAATATCAACAAAACTTCCTGATCAAAAGAGCACAATGCATGCGATTTTAATGATATCCCTATTATTAATATTAAAACAACAAAGGGTGACAATACTTCTCACCATACCCTGCTCACCAGCCCCTCCATCTCTGTCACTTGTCTACCTCCAGGGCCCATCCCACAGTCCCCAAAGACTGGCTTCCTGCTCACGGGCAAGTTCAGTGCCCAGGTGCACAGACCATCCTCCACGTTAGCCTCCAAGTGCTCAAACCATCCCACCTCCCATGACCCATGCCATGCTCTACTCGGCAGACCTGACCAGAGACCACAACCTCACCTGGAGCTCTCCCTCTCCTGGAGCTCTAAGTGCAGGCCCATGAGTTACCAGACTTGCCTTGGACGGCAACCCTTACCCTCCCAGCCCACTGCACCAACCACTCCATGCGATCGTGCTCTGTGACCCTTCACCTCTCAACCCTCCCTCCTTCGCAAAGTCCACCACCGCCAGTTACATTCCCACGGATGCTCATTTAGCCACCCCTCTGCCACCTACCTGGACCCCTTTCAACCCCCTGCATCTTCCCTGTAAACATCCAAAGGTAGGTCAACTCAACCATCAGTCTTCTGCAGACCTATGGTCAGTGCCGGTGCTGCTGGAGAAAAGCTCATACATGGCAGCATCCTGCCATGGCCTGTCCTGCTCCAGGGGGTCCTCTACGCATGCCCGCCCAGCATCTTCCACAAGCCCAGAGCAACTGTGCCCATGCTCCTCACCACCCAAGCCACCCGCAACTCTGTCTCAACTTCTACTTAAAAACAATCAGACAAATAAAAACAAAATGAAAATCAAACCTGAACCTACCAGGATCAGGCATGATTCCCTGGTTTTCACTCCCTAACATGTCTCTACTTCTGCATCCACCTCATTTTCCTTTATTCCCAGAGGAAGAGGTTCTTGTACAGGATGGAGGGCAACCCTTCCACCTCTGCACTGTATCTGAAGACCCACTCATTCTCCCCAGTACAGTGCCTCACCCATTAGCCTCCAAGTGGAAGATGGGGGCATTCCTGAGAAAATTAGGTACCATCCCCACCTCCACTTCCTCACCTCCAGTCACTCCTGAAGCCCGCACCCAGAGCAAGCCTCACGGGCACCTCTGTTGATGCCACTGAGGCATCACTCATGACTTCCTAGTGGCCAAACACACTGGGTCCTTTCCAGGTCACCCTACTCACCTTCCGATGCCCAGGTCTTCACTTCTGTTCATGCACCTGTCTGTGCCAGCCTCCCCAGTCTTCCCAGCTAGCTCCTCCTCTTCTACCCTCCTCCTTGCTCCCAGCCCTGACCACACTGGCCTCCCTGCTGTCTATGAAGGCCCCAAAGCACTGCCACAGCTCACCATCTGCAATGCTCTGCCTTCAAAACCTACAAGACTTGCTCCTTCGCCTTCTTTAGGCCTCTGCTCAGGTGTCAGTTCATCAAAGGTCTTCTCTGACCAACCCTTACAAATGGCCCACTTCCCCAAATCCTTGCCCTCAGCATTCCCAGCTTATCCTTCAACCCTGCTTCATTTGTCTCCACACTTAATGCTGCCACCTGACATCTTCTATACCTTTTTGTGACACTCTCCCTCAAGAATAAATGTGAGTCCCCATGAGAACAAAACTTGCTTTGTTCACTGCTGTATCTCAGAGCCTAGGATCACGACAGGCATATGGTTGGCACCTAATACAATTTGTAGCATGAATGAATTAGGGGCTTAAGGAGAATGGAGATGTTTAAAAGAGTAGCTATAGGAATCCATGTGTCAGTAAGAGGGAGGTCAAAGCCTGTGGACTAGAGAAGAATCCACTGAGGGCAGACGCCACAGCGGGCCTAGCCTGCCCACAGTTCCAGGATCATACCTCACCAGACTCTCTCATCCGCAGAGGAGAATCAGAGTGAAGGGAAAGACACACTTGTGCTTTAGGAATGCTTCGTTAACTCCTGGATTTACAGACCTGTTCATTTTTATCTGGCAAAGAAAGGCTCACCTTGACATCTGACTTCATTCTCCGCAGTAGGTATGGATTTATGGTATCTCGTAAGACACATGCACACTTGTAAGCAGTTTTGACCTTTAATAAGAGCAGAGAAGGGAACATTACTATATATGTTTAAGGAACGCATTTGTTCTTACCTCTCAATTGCTTCCATTCCTTAAAAAAAAAAAAAGAATAACCAACAGCTGTATAAAGTCAGTGGGAAATGATTGCAAAATGGTTTGAAAAAGCTAGCATAAGTTCCATATACTCCAAGGGGTGGTAGCTTTCATAATATTATCAGTTAAAAAAATTATCTCATTAACCAAAATGTACAACAAAAGAAAAACTGATAATTTTGTGCCTTATTTCTCTTATACACTTTCCTTTAATTATTACTATACAGTTAAACCCTAAAGTAGAGACTTACTGGGTTCTTGACCACCAGCCCTAGGGGAAAAACTGCTTTTGTACAAATCTCTGTTTATGATCTTGTATTCTCCAAAAGCTACAAAGGAACTCTGCAAAGCTGAAGATCAAAAGCTAACTCTGGGGAAAAGCTACAGTGATGGAGCAGCCAGCCAATAAGCAGAGATTACTGTCCACTGGAGACTTACAAGAGTAAGTTCAACAAGAGCCCTCTGATCCCAGAAACGAAAGGTCACTCTGCCCTAAAATGCAGCATATGGTTCTGTAATGGAGCACGGCCACATGAGATGAGTACTAAATATACGCAAAAAAAAAAAGCCCCACAGCCCAGAAAACCACTCCCTCTGCAATTCACTTACAGGCAAAGTAGTCAATAAATTATTGCTACTTCAAAAAAAATCTAAATAGGCTTAACAACTTAGTAAATTACTATTTCATGGAAAAAATTCCAACCAAAGTTTAAATTTAAGAAAGTCAGCTGTAAAATGAATGATAATAAAAAAGAGCTTGACCACACACACAGAAAAAAAAGTTAAAAAATTAACTTGTTAAAAAATGTTCTTAAAGAACGCTAAAAATACCTCACTCATGCACATATATGTATGTGTGTGTATCTGTTGTATGAATGCATGTGCGTAAATATTAAAATAGGCTTTACTTTGAATAATACATAAAAAAGAAGCTCAACTAATCAATGACTTTTAGTTATATATAACTCCTTAAATATATCATTCAGACTGATGAATATCACCTTGAAGATGATGATGAGGTACATATTATGATTTCTGATGCAGAGATGATGAAATTTCAGAATTTAAAAACATAGTCCCACTGAGGAAGCACGAATGTACAGTCTATAAAGAAAACTGCCCCCACATCCTCCCTCCACCCACACCCCCTTCCGCAGAAGAGCGAGCATGCTGGTTGGAGGTGCTGGTCAACTAAACCAGGGCTAGGCTGGGGAACGGCCGGGCTGTGGCTCCTGCTCTCTCCTGCATGCCACCCCATGGAGATGATCTTCTGTTTCACTCCCAACTGGCTCCCAGTCTGTTCCTCTATTCATAAAAACACAAGGTGGGGATTCAGCTAGATTTCTCTACCAATGCTCACATCCCAGTGCTGTGGAAAACAGACAACTTGCTGAGCATGCCCATGCTCCTTCCCATTCTGACAAGGCAGAGCTCTGCCTCTTCCTGAGCACAGTGACCTTAGGCAAGTCACCAGAACGCTGAGAATCAAAAACCTTGCATGTGGAATAAAGAGGGTCAACTAGGCGTCCCTGCAGGCTCTTCTCAGTTCTCACATGCCCTGCCCCAGCTGAGCACACCAACCCCAGCAGCAGTCTATATTTGGGCTGCTGACATGCTCCCCATCACCTTCCTCACCTTTCAGGCCCCAGGTGAGTCATCCCTTCTCCGAGAAGCCTTTCTGAGCCCCATAAGCTCTGACACTGGGCATCTCCCCTGATCACAGTCCTCACTGCCCTGTACTGGGACCAGGTTTATTTGCCATTTTCCCCTGTGCCCACCCCTACTGGACTGGAAATACCTTCATGGGAAGGTTCTGGTTTCTAGCCCCTGCCATCATTTTAGCACCAGCATGACAGAATAAATACCGGCACACAGACTAT
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Task1_train_13882
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Consider a variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor). Determine its clinical classification and disease relevance.
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Pathogenic; Inborn genetic diseases
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ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCCTCAGGTGGTTAGAAAACAGTAACCTCAGCTGTGAATCTACATGGAAAGAGGTGTGGGAGAGGGAGGGGAGGAATGGTAAAGCCAATGTGGCAAAATGTTTGCAAAATGCTAACAATCAGTGAATCTGGGTGAAGTGTTAAGAAGGTTTTCTTGTTTGTTTGTTCTTTTAAAATTCTTGCAACTTTCTGTTAAGTTTGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTCACAGCAAGCTTAGCCCCTACTCCATCTCCTCGATCCTGTCAGCCTCCAAACCTTGTTTGTTCTGCCTAAAAATGCCACCTGCGTCTCCTGCCCCACCATCTTTCTCAGACCACCACCCAAGATCAGGTCCAGGTCCTCATGGCCCTCACCCCAGTGGTTCCTGCAGGTCACTCAGTGCCAGCCTCCCTCTTGTGACTACCCTGTAGCCTGAGGAACCCCTGAGAACCAGCATCCTCCAGAGTCCTGCTCAGACACTTTCAGTAACCCAGCCCTCCCTGAGTGCCACTGCTTCCCTTTCAAGGCCCCACAGTTCTAGCATCCACAGCTTTTTAGCTATGCCCCCACAAGCATCTCCAATCCAGTCAAGTGGGTCTCTTCACTGCGCCCTGCCACATATGGTGGCTGCATCCACACTGTTGCCCTAATCAAGAATGCCCTCACTCTCCATGGCCTACATTCCCAGAATCAGGTTAAGGGGCATGTCTCATTAAATCATCCCTGAACAGTCCAATCCTCCTAGTGTCCCCTTTTCTAAGTTTCTCCACTACTTTATAAGATGCACTACCCCAGTTTGCAGGACTAAATTACATGCTGTTCCAAACTGATTTGTCCTTGTTTCATAATTTCTAACTGCTCTTCTGACCACATGTGACATCTTTTTAAACATCCCAGGAACAATGCCAAAACTGTTTAATTTCCATTAAACAAGGAGATATTTTATTCTAGGGCTTTCCTCTCTGTGAATAGTTTTCATGATGTTTTAAGTGAAAAAATATGATCAAGCAAAGATAATTTTGTGATTTTTTTTTTTTTTTTTTAACCAGATACCAATTTATGAGCCTGGCCATCTTTCTCACATTCTGAATGACTTGGCTACAAATTATAGTATTTAATAGGAGCACTTTAAATATTAAAATGCCAAAAGTATTATCATCCTAATATTTTACCTGTACTGGGGAAGCATTTGAATATCCCCCCATGGTGATGGGGACGGAGAACTGCTCCATAAACACAGGCAACGTGCCTAACTTTCCCGGGAAGATGAAGTCAAAGAGCGACCACAGCTCTCGGAGGTTATTTTGCATCGGTGAGCCAGACAGAATGATCCGATGAGGGGTGCGAAACTATTTGAGGAAAGGAAGCACCTTTTTATTAAATTTACCTTTTAGCAATCGCCATTCCTACCCTAAAACGCTCCTCTGCAAATTATTTACACATTTACTCATCATTCTTGCATCATTTTGGTACTCTCCAAAACATACACATTTTATGCAATTACAAATCCTTAATTACATTTAGATGAAAAAATGAGAAAGAATTTTTTCTTATTGTTGAAGCTGAATACTATAGATTAGAGTTGGGTTTGGTTACATTCTAACAACTGGCCCCTACAAGAGACATTAAATAACATGAACAATCAGAATTAAAGACATGATTAAGGGCAAAAATAAAGAGTTTTCTGCATTAAGGAAAATGCACATTTTAAATTTCTTGTGCAGTTGGCACAAGGAAAGATTCAATAAATGTGTTACTAAAAGCAGATAGTTTATTCTGAATTAATTATTCTTCTCCACTTGGAAATCTCCCTTGTTAAAAGAGGTCATACCTGTTTGCAAGCAAGGGTGACAGCAGCATTTGGATTTCGAATTTTGTGTCCTTCGTCCAAGATCACATAGTGCCAGTCATACCTGCTAATGTCATCCTGCATCAATCGAATGTAGGAGTAAGATGTGATCAAAATTCCATGACAATGAGCAACATCTCGAATTAGTTTCTCCTGAGACCACAATAAAATGGTAAAGTCAGTTTTAAATAAGAAGTGACACCCTTTCAATCATGACACAATCTAAAGTACTTTATAAAAATGCACAAATACAAACATAACATGCACAATCACAGACATTATCAGCACTGGAAGTGTACTTGTTAACCTGGCAAGTAGTAAACGCTGACTAATACAGCCGTTATTAGGGGAAGGAGACTCTCAAAAAGATGACAAAGTTATAATACATATATTTATAAATATATACATATATTAAATTATTATTTTTATTTTTTCAAAACATCCTTTGTGTCCATTCTTGTCAAAACAACAATGTGGATGGAAAATATATTAATTTAAAACAAAAGCAAGAAAATAAGAGAAAATCCAAAGAGACAAGGCAGACAAATCTAGGATCTCTAACAATGTATAACAAGAATTCCAGGACAGAGTGAAAAGGATATAAAAGCAATGATTTTAAAATGATAGAAAAAAAGCCGGGTACAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTACGCAACATGGTGAAAGCCTATCTCTAAAAAAAAATTTTAAAAGTTAGCTGGATGTGGTGCCAAGCACCTGTAGTCCCATCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTACAGTGAGCAGTGATGGCACCACTACACTCCAGCCTGGGTGACAGTCAGACTCTGCCTCAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAATGTTAGAAAACAATCACCATAAATGGAGCCGAGATTTGAATCTACAGAACAAAACATCTCCCAGAGTGTCAGGCAGAGACACTAAGAAAAAGACGCATCTGTAGACATATCTTACTAGATGTCTGAATTCCAAAAATAAATAAAAACAGCCAGGCAAAGTGGCTTATGTCTGTAATCTCAGCACTTTGGGAGGCTGAGGGAGGAGAATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGAACAACAAAGCAAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCACTGCATGGTGGTGCACAGCTGCAGTGCCAGCTACTTAGCAGGCTCAGGCAAGAAGATCCCTTGAGCTCAGGAGTTAGAGTCTACAGTGAGCTATAATCTCACCACTGCATTCCAGGCTAGACAACGGCGCAAGATCCTGACTCAAAAGAGAAAAATGTTTTTAAAAATAAGGAGAAAATGTCATAGATTCTAGTCAGAACAAAACAGAAAAAGAAAATATTCCCTTCAGAGGAAAAAGACTACCTGCATCAGACATCTTTTCTGCAACACTAAAAATGTCCGAAGGCAAAGAGGAAAAT
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ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCCTCAGGTGGTTAGAAAACAGTAACCTCAGCTGTGAATCTACATGGAAAGAGGTGTGGGAGAGGGAGGGGAGGAATGGTAAAGCCAATGTGGCAAAATGTTTGCAAAATGCTAACAATCAGTGAATCTGGGTGAAGTGTTAAGAAGGTTTTCTTGTTTGTTTGTTCTTTTAAAATTCTTGCAACTTTCTGTTAAGTTTGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTCACAGCAAGCTTAGCCCCTACTCCATCTCCTCGATCCTGTCAGCCTCCAAACCTTGTTTGTTCTGCCTAAAAATGCCACCTGCGTCTCCTGCCCCACCATCTTTCTCAGACCACCACCCAAGATCAGGTCCAGGTCCTCATGGCCCTCACCCCAGTGGTTCCTGCAGGTCACTCAGTGCCAGCCTCCCTCTTGTGACTACCCTGTAGCCTGAGGAACCCCTGAGAACCAGCATCCTCCAGAGTCCTGCTCAGACACTTTCAGTAACCCAGCCCTCCCTGAGTGCCACTGCTTCCCTTTCAAGGCCCCACAGTTCTAGCATCCACAGCTTTTTAGCTATGCCCCCACAAGCATCTCCAATCCAGTCAAGTGGGTCTCTTCACTGCGCCCTGCCACATATGGTGGCTGCATCCACACTGTTGCCCTAATCAAGAATGCCCTCACTCTCCATGGCCTACATTCCCAGAATCAGGTTAAGGGGCATGTCTCATTAAATCATCCCTGAACAGTCCAATCCTCCTAGTGTCCCCTTTTCTAAGTTTCTCCACTACTTTATAAGATGCACTACCCCAGTTTGCAGGACTAAATTACATGCTGTTCCAAACTGATTTGTCCTTGTTTCATAATTTCTAACTGCTCTTCTGACCACATGTGACATCTTTTTAAACATCCCAGGAACAATGCCAAAACTGTTTAATTTCCATTAAACAAGGAGATATTTTATTCTAGGGCTTTCCTCTCTGTGAATAGTTTTCATGATGTTTTAAGTGAAAAAATATGATCAAGCAAAGATAATTTTGTGATTTTTTTTTTTTTTTTTTAACCAGATACCAATTTATGAGCCTGGCCATCTTTCTCACATTCTGAATGACTTGGCTACAAATTATAGTATTTAATAGGAGCACTTTAAATATTAAAATGCCAAAAGTATTATCATCCTAATATTTTACCTGTACTGGGGAAGCATTTGAATATCCCCCCATGGTGATGGGGACGGAGAACTGCTCCATAAACACAGGCAACGTGCCTAACTTTCCCGGGAAGATGAAGTCAAAGAGCGACCACAGCTCTCGGAGGTTATTTTGCATCGGTGAGCCAGACAGAATGATCCAATGAGGGGTGCGAAACTATTTGAGGAAAGGAAGCACCTTTTTATTAAATTTACCTTTTAGCAATCGCCATTCCTACCCTAAAACGCTCCTCTGCAAATTATTTACACATTTACTCATCATTCTTGCATCATTTTGGTACTCTCCAAAACATACACATTTTATGCAATTACAAATCCTTAATTACATTTAGATGAAAAAATGAGAAAGAATTTTTTCTTATTGTTGAAGCTGAATACTATAGATTAGAGTTGGGTTTGGTTACATTCTAACAACTGGCCCCTACAAGAGACATTAAATAACATGAACAATCAGAATTAAAGACATGATTAAGGGCAAAAATAAAGAGTTTTCTGCATTAAGGAAAATGCACATTTTAAATTTCTTGTGCAGTTGGCACAAGGAAAGATTCAATAAATGTGTTACTAAAAGCAGATAGTTTATTCTGAATTAATTATTCTTCTCCACTTGGAAATCTCCCTTGTTAAAAGAGGTCATACCTGTTTGCAAGCAAGGGTGACAGCAGCATTTGGATTTCGAATTTTGTGTCCTTCGTCCAAGATCACATAGTGCCAGTCATACCTGCTAATGTCATCCTGCATCAATCGAATGTAGGAGTAAGATGTGATCAAAATTCCATGACAATGAGCAACATCTCGAATTAGTTTCTCCTGAGACCACAATAAAATGGTAAAGTCAGTTTTAAATAAGAAGTGACACCCTTTCAATCATGACACAATCTAAAGTACTTTATAAAAATGCACAAATACAAACATAACATGCACAATCACAGACATTATCAGCACTGGAAGTGTACTTGTTAACCTGGCAAGTAGTAAACGCTGACTAATACAGCCGTTATTAGGGGAAGGAGACTCTCAAAAAGATGACAAAGTTATAATACATATATTTATAAATATATACATATATTAAATTATTATTTTTATTTTTTCAAAACATCCTTTGTGTCCATTCTTGTCAAAACAACAATGTGGATGGAAAATATATTAATTTAAAACAAAAGCAAGAAAATAAGAGAAAATCCAAAGAGACAAGGCAGACAAATCTAGGATCTCTAACAATGTATAACAAGAATTCCAGGACAGAGTGAAAAGGATATAAAAGCAATGATTTTAAAATGATAGAAAAAAAGCCGGGTACAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTACGCAACATGGTGAAAGCCTATCTCTAAAAAAAAATTTTAAAAGTTAGCTGGATGTGGTGCCAAGCACCTGTAGTCCCATCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTACAGTGAGCAGTGATGGCACCACTACACTCCAGCCTGGGTGACAGTCAGACTCTGCCTCAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAATGTTAGAAAACAATCACCATAAATGGAGCCGAGATTTGAATCTACAGAACAAAACATCTCCCAGAGTGTCAGGCAGAGACACTAAGAAAAAGACGCATCTGTAGACATATCTTACTAGATGTCTGAATTCCAAAAATAAATAAAAACAGCCAGGCAAAGTGGCTTATGTCTGTAATCTCAGCACTTTGGGAGGCTGAGGGAGGAGAATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGAACAACAAAGCAAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCACTGCATGGTGGTGCACAGCTGCAGTGCCAGCTACTTAGCAGGCTCAGGCAAGAAGATCCCTTGAGCTCAGGAGTTAGAGTCTACAGTGAGCTATAATCTCACCACTGCATTCCAGGCTAGACAACGGCGCAAGATCCTGACTCAAAAGAGAAAAATGTTTTTAAAAATAAGGAGAAAATGTCATAGATTCTAGTCAGAACAAAACAGAAAAAGAAAATATTCCCTTCAGAGGAAAAAGACTACCTGCATCAGACATCTTTTCTGCAACACTAAAAATGTCCGAAGGCAAAGAGGAAAAT
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Task1_train_13883
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A mutation on Chromosome 10 affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cockayne syndrome type 2
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ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCCTCAGGTGGTTAGAAAACAGTAACCTCAGCTGTGAATCTACATGGAAAGAGGTGTGGGAGAGGGAGGGGAGGAATGGTAAAGCCAATGTGGCAAAATGTTTGCAAAATGCTAACAATCAGTGAATCTGGGTGAAGTGTTAAGAAGGTTTTCTTGTTTGTTTGTTCTTTTAAAATTCTTGCAACTTTCTGTTAAGTTTGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTCACAGCAAGCTTAGCCCCTACTCCATCTCCTCGATCCTGTCAGCCTCCAAACCTTGTTTGTTCTGCCTAAAAATGCCACCTGCGTCTCCTGCCCCACCATCTTTCTCAGACCACCACCCAAGATCAGGTCCAGGTCCTCATGGCCCTCACCCCAGTGGTTCCTGCAGGTCACTCAGTGCCAGCCTCCCTCTTGTGACTACCCTGTAGCCTGAGGAACCCCTGAGAACCAGCATCCTCCAGAGTCCTGCTCAGACACTTTCAGTAACCCAGCCCTCCCTGAGTGCCACTGCTTCCCTTTCAAGGCCCCACAGTTCTAGCATCCACAGCTTTTTAGCTATGCCCCCACAAGCATCTCCAATCCAGTCAAGTGGGTCTCTTCACTGCGCCCTGCCACATATGGTGGCTGCATCCACACTGTTGCCCTAATCAAGAATGCCCTCACTCTCCATGGCCTACATTCCCAGAATCAGGTTAAGGGGCATGTCTCATTAAATCATCCCTGAACAGTCCAATCCTCCTAGTGTCCCCTTTTCTAAGTTTCTCCACTACTTTATAAGATGCACTACCCCAGTTTGCAGGACTAAATTACATGCTGTTCCAAACTGATTTGTCCTTGTTTCATAATTTCTAACTGCTCTTCTGACCACATGTGACATCTTTTTAAACATCCCAGGAACAATGCCAAAACTGTTTAATTTCCATTAAACAAGGAGATATTTTATTCTAGGGCTTTCCTCTCTGTGAATAGTTTTCATGATGTTTTAAGTGAAAAAATATGATCAAGCAAAGATAATTTTGTGATTTTTTTTTTTTTTTTTTAACCAGATACCAATTTATGAGCCTGGCCATCTTTCTCACATTCTGAATGACTTGGCTACAAATTATAGTATTTAATAGGAGCACTTTAAATATTAAAATGCCAAAAGTATTATCATCCTAATATTTTACCTGTACTGGGGAAGCATTTGAATATCCCCCCATGGTGATGGGGACGGAGAACTGCTCCATAAACACAGGCAACGTGCCTAACTTTCCCGGGAAGATGAAGTCAAAGAGCGACCACAGCTCTCGGAGGTTATTTTGCATCGGTGAGCCAGACAGAATGATCCGATGAGGGGTGCGAAACTATTTGAGGAAAGGAAGCACCTTTTTATTAAATTTACCTTTTAGCAATCGCCATTCCTACCCTAAAACGCTCCTCTGCAAATTATTTACACATTTACTCATCATTCTTGCATCATTTTGGTACTCTCCAAAACATACACATTTTATGCAATTACAAATCCTTAATTACATTTAGATGAAAAAATGAGAAAGAATTTTTTCTTATTGTTGAAGCTGAATACTATAGATTAGAGTTGGGTTTGGTTACATTCTAACAACTGGCCCCTACAAGAGACATTAAATAACATGAACAATCAGAATTAAAGACATGATTAAGGGCAAAAATAAAGAGTTTTCTGCATTAAGGAAAATGCACATTTTAAATTTCTTGTGCAGTTGGCACAAGGAAAGATTCAATAAATGTGTTACTAAAAGCAGATAGTTTATTCTGAATTAATTATTCTTCTCCACTTGGAAATCTCCCTTGTTAAAAGAGGTCATACCTGTTTGCAAGCAAGGGTGACAGCAGCATTTGGATTTCGAATTTTGTGTCCTTCGTCCAAGATCACATAGTGCCAGTCATACCTGCTAATGTCATCCTGCATCAATCGAATGTAGGAGTAAGATGTGATCAAAATTCCATGACAATGAGCAACATCTCGAATTAGTTTCTCCTGAGACCACAATAAAATGGTAAAGTCAGTTTTAAATAAGAAGTGACACCCTTTCAATCATGACACAATCTAAAGTACTTTATAAAAATGCACAAATACAAACATAACATGCACAATCACAGACATTATCAGCACTGGAAGTGTACTTGTTAACCTGGCAAGTAGTAAACGCTGACTAATACAGCCGTTATTAGGGGAAGGAGACTCTCAAAAAGATGACAAAGTTATAATACATATATTTATAAATATATACATATATTAAATTATTATTTTTATTTTTTCAAAACATCCTTTGTGTCCATTCTTGTCAAAACAACAATGTGGATGGAAAATATATTAATTTAAAACAAAAGCAAGAAAATAAGAGAAAATCCAAAGAGACAAGGCAGACAAATCTAGGATCTCTAACAATGTATAACAAGAATTCCAGGACAGAGTGAAAAGGATATAAAAGCAATGATTTTAAAATGATAGAAAAAAAGCCGGGTACAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTACGCAACATGGTGAAAGCCTATCTCTAAAAAAAAATTTTAAAAGTTAGCTGGATGTGGTGCCAAGCACCTGTAGTCCCATCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTACAGTGAGCAGTGATGGCACCACTACACTCCAGCCTGGGTGACAGTCAGACTCTGCCTCAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAATGTTAGAAAACAATCACCATAAATGGAGCCGAGATTTGAATCTACAGAACAAAACATCTCCCAGAGTGTCAGGCAGAGACACTAAGAAAAAGACGCATCTGTAGACATATCTTACTAGATGTCTGAATTCCAAAAATAAATAAAAACAGCCAGGCAAAGTGGCTTATGTCTGTAATCTCAGCACTTTGGGAGGCTGAGGGAGGAGAATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGAACAACAAAGCAAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCACTGCATGGTGGTGCACAGCTGCAGTGCCAGCTACTTAGCAGGCTCAGGCAAGAAGATCCCTTGAGCTCAGGAGTTAGAGTCTACAGTGAGCTATAATCTCACCACTGCATTCCAGGCTAGACAACGGCGCAAGATCCTGACTCAAAAGAGAAAAATGTTTTTAAAAATAAGGAGAAAATGTCATAGATTCTAGTCAGAACAAAACAGAAAAAGAAAATATTCCCTTCAGAGGAAAAAGACTACCTGCATCAGACATCTTTTCTGCAACACTAAAAATGTCCGAAGGCAAAGAGGAAAAT
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ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCCTCAGGTGGTTAGAAAACAGTAACCTCAGCTGTGAATCTACATGGAAAGAGGTGTGGGAGAGGGAGGGGAGGAATGGTAAAGCCAATGTGGCAAAATGTTTGCAAAATGCTAACAATCAGTGAATCTGGGTGAAGTGTTAAGAAGGTTTTCTTGTTTGTTTGTTCTTTTAAAATTCTTGCAACTTTCTGTTAAGTTTGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTCACAGCAAGCTTAGCCCCTACTCCATCTCCTCGATCCTGTCAGCCTCCAAACCTTGTTTGTTCTGCCTAAAAATGCCACCTGCGTCTCCTGCCCCACCATCTTTCTCAGACCACCACCCAAGATCAGGTCCAGGTCCTCATGGCCCTCACCCCAGTGGTTCCTGCAGGTCACTCAGTGCCAGCCTCCCTCTTGTGACTACCCTGTAGCCTGAGGAACCCCTGAGAACCAGCATCCTCCAGAGTCCTGCTCAGACACTTTCAGTAACCCAGCCCTCCCTGAGTGCCACTGCTTCCCTTTCAAGGCCCCACAGTTCTAGCATCCACAGCTTTTTAGCTATGCCCCCACAAGCATCTCCAATCCAGTCAAGTGGGTCTCTTCACTGCGCCCTGCCACATATGGTGGCTGCATCCACACTGTTGCCCTAATCAAGAATGCCCTCACTCTCCATGGCCTACATTCCCAGAATCAGGTTAAGGGGCATGTCTCATTAAATCATCCCTGAACAGTCCAATCCTCCTAGTGTCCCCTTTTCTAAGTTTCTCCACTACTTTATAAGATGCACTACCCCAGTTTGCAGGACTAAATTACATGCTGTTCCAAACTGATTTGTCCTTGTTTCATAATTTCTAACTGCTCTTCTGACCACATGTGACATCTTTTTAAACATCCCAGGAACAATGCCAAAACTGTTTAATTTCCATTAAACAAGGAGATATTTTATTCTAGGGCTTTCCTCTCTGTGAATAGTTTTCATGATGTTTTAAGTGAAAAAATATGATCAAGCAAAGATAATTTTGTGATTTTTTTTTTTTTTTTTTAACCAGATACCAATTTATGAGCCTGGCCATCTTTCTCACATTCTGAATGACTTGGCTACAAATTATAGTATTTAATAGGAGCACTTTAAATATTAAAATGCCAAAAGTATTATCATCCTAATATTTTACCTGTACTGGGGAAGCATTTGAATATCCCCCCATGGTGATGGGGACGGAGAACTGCTCCATAAACACAGGCAACGTGCCTAACTTTCCCGGGAAGATGAAGTCAAAGAGCGACCACAGCTCTCGGAGGTTATTTTGCATCGGTGAGCCAGACAGAATGATCCAATGAGGGGTGCGAAACTATTTGAGGAAAGGAAGCACCTTTTTATTAAATTTACCTTTTAGCAATCGCCATTCCTACCCTAAAACGCTCCTCTGCAAATTATTTACACATTTACTCATCATTCTTGCATCATTTTGGTACTCTCCAAAACATACACATTTTATGCAATTACAAATCCTTAATTACATTTAGATGAAAAAATGAGAAAGAATTTTTTCTTATTGTTGAAGCTGAATACTATAGATTAGAGTTGGGTTTGGTTACATTCTAACAACTGGCCCCTACAAGAGACATTAAATAACATGAACAATCAGAATTAAAGACATGATTAAGGGCAAAAATAAAGAGTTTTCTGCATTAAGGAAAATGCACATTTTAAATTTCTTGTGCAGTTGGCACAAGGAAAGATTCAATAAATGTGTTACTAAAAGCAGATAGTTTATTCTGAATTAATTATTCTTCTCCACTTGGAAATCTCCCTTGTTAAAAGAGGTCATACCTGTTTGCAAGCAAGGGTGACAGCAGCATTTGGATTTCGAATTTTGTGTCCTTCGTCCAAGATCACATAGTGCCAGTCATACCTGCTAATGTCATCCTGCATCAATCGAATGTAGGAGTAAGATGTGATCAAAATTCCATGACAATGAGCAACATCTCGAATTAGTTTCTCCTGAGACCACAATAAAATGGTAAAGTCAGTTTTAAATAAGAAGTGACACCCTTTCAATCATGACACAATCTAAAGTACTTTATAAAAATGCACAAATACAAACATAACATGCACAATCACAGACATTATCAGCACTGGAAGTGTACTTGTTAACCTGGCAAGTAGTAAACGCTGACTAATACAGCCGTTATTAGGGGAAGGAGACTCTCAAAAAGATGACAAAGTTATAATACATATATTTATAAATATATACATATATTAAATTATTATTTTTATTTTTTCAAAACATCCTTTGTGTCCATTCTTGTCAAAACAACAATGTGGATGGAAAATATATTAATTTAAAACAAAAGCAAGAAAATAAGAGAAAATCCAAAGAGACAAGGCAGACAAATCTAGGATCTCTAACAATGTATAACAAGAATTCCAGGACAGAGTGAAAAGGATATAAAAGCAATGATTTTAAAATGATAGAAAAAAAGCCGGGTACAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTACGCAACATGGTGAAAGCCTATCTCTAAAAAAAAATTTTAAAAGTTAGCTGGATGTGGTGCCAAGCACCTGTAGTCCCATCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCCAGGAGGTCAAGGCTACAGTGAGCAGTGATGGCACCACTACACTCCAGCCTGGGTGACAGTCAGACTCTGCCTCAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAATGTTAGAAAACAATCACCATAAATGGAGCCGAGATTTGAATCTACAGAACAAAACATCTCCCAGAGTGTCAGGCAGAGACACTAAGAAAAAGACGCATCTGTAGACATATCTTACTAGATGTCTGAATTCCAAAAATAAATAAAAACAGCCAGGCAAAGTGGCTTATGTCTGTAATCTCAGCACTTTGGGAGGCTGAGGGAGGAGAATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGAACAACAAAGCAAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCACTGCATGGTGGTGCACAGCTGCAGTGCCAGCTACTTAGCAGGCTCAGGCAAGAAGATCCCTTGAGCTCAGGAGTTAGAGTCTACAGTGAGCTATAATCTCACCACTGCATTCCAGGCTAGACAACGGCGCAAGATCCTGACTCAAAAGAGAAAAATGTTTTTAAAAATAAGGAGAAAATGTCATAGATTCTAGTCAGAACAAAACAGAAAAAGAAAATATTCCCTTCAGAGGAAAAAGACTACCTGCATCAGACATCTTTTCTGCAACACTAAAAATGTCCGAAGGCAAAGAGGAAAAT
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Task1_train_13884
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A variant has been detected on Chromosome 10 in ERCC6 (ERCC excision repair 6, chromatin remodeling factor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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TCTCACAAGCCACTTCCACCAATACCATCTTAATAAAGACAATCTGGGATGTAGTCCAATATGCCACATTATTTCATTATAGAGAAGAGGATATGAGCATTGATAGTTAATTGATTACAGCTGCTGTTCATTATTAGCCTTGACTTCATTCTTAGTAGGATTGTCACCACCCAAGAGAGCATGTTTTAATTTTTAGATCAAAACTACACTGCAGGGATGACTTTAGTTCTCCTAGGACCTGAGCACTGGACTCCACATAAGTGTGATGATAATAGGAAGGGAAGCAAAGAAAAGAAATGAAATGGGAAATAAGAAAATCCCAGAAACCATTTAAGGAAAGAAAGAGTCCTAGAAACCATTTGGAGGAGTTTGGGGTTGTCTAGTTACCAAAAACACCCAACAGAGTTGCAGAAAACAAGCCAACCAAAGAGCTTATTTGAAACAGAAAAAGCATTTTATTTGAAACAGAAAAAGCATATTAAAAAAATTAACAGTCATAGATAAGACCACACTAAATGCCCACTTGGAACTTCAACTTTTCCTTTGGTCTGGAATGTTTTCACATGCTTCCAAGCAAAATGTAATAGAATTCTCATCTTTGAAAAAATCCCCTGCTTCAATATAACTTCCTTGTAACAACAACAACACGATGTTTAGCATTTAAAAATCTCCAAGTGTTTTCTTCCCCTTCCTACATCTATATAAATGCAACTGGCGTTCTAAAATATTCTAAAACTCCAAACACTCCTCACAGAAGTATTGATCTGCTAACTTAACGAAAGAGTAAGAAATAAAACACTAAACTCTGGAGACTAAAGAAACATGATCTTGACTCAGTTTATGGTTCATATTTGGCTCTCTACTAAGCATTTCGCTGCTGATGAGCTGGAGAGTAGGAAGAACTTTCGGCAGTTGCTGACTTCAGGCACACTGACACTACTGTAAAGGTTATCTCCAAATCATATATAGGGAGTGTCTGAGGTTTCCTGGGCACACCCCTCTAGCAACTACCTTGCTCTTACTCTTTATATAAGCCTACTGAAACACAAGGAGCTCGGACTTATCTGGGTTCAGTATGATGAAATATCCTACATAATTTACCGACCAATATTTTTACCAATACTGATTTCTACAGAGTCAATTTACAGTTTAAATATGGAAGTGCTCATAGTACTTTCTTTCAAAATAAAGTATTTCAGTCCTACCATATCAAATAGATTAAATGCTTATTCTTCTGGAATACAAAAGCCTTAATAGTTTATTTAAATTTCTAAAGAGAATAAAGATTAACATCTAAACATAGTTTTCTACCATTTTAGGTAGTCACTTACGTTTTGGCATTAGAATTTATTACATAAAGTTCATAGATTGGGAAGGGCAGAAAACACAGGGATCAGACAAGTAACTTCATTCAAAAACAAGAGAGAGAGCAAGCTATCTAGAAATGCTATCATGCACACTCATTATAAAGGAAATTAGGGAGAATGGCTTCTTCAAAGCTCCAACTCTCCCCATGAATAGACTTTGTACTTACTGTAATGCTCACCTGGTCTCCTGCCAGAACAAATATTTTAATGTAAAATTTAATAAATGGAACTAAAGGTATTATGTCTAATTTAAAATTCCATATTGTGTAAACTATTGATATTAACATAATTGAGTTTGTAAACAATCCCTTTGTAGAAGCTAACCTTAGACATCGTATTGACCCAAAATATCTAGTGGGGCTCATCTGCAAAATGAAGCATCAATGCCTGGAATTCATTAAAAGTGTTACATGTTTAATTTCTCCTGCCCTACAGCTCCATTGTCTCGTAAAATTTTTCCTTTGATGTCCCCCACTAAAAGAATTAAAGGAATATTGTAATTGAAATGTCATCAATAATTCACAAGACCCTCCTCCACAGCAATACATCTGATGAAATATTAATTGAGCTCCACAGACTGACAGTCTGCAGAGGAGCACTTGCCTGTAATTTGAACCACGAGTCCTGATCTTGCTGTAGCTCAGACCTGCCAAGAAGGCAATTATCTGGATGGTCTTGCCCAATCCCATTTCATCTCCCAGAATTCCTCCTGCCTGCTGGCAGTGCAATTCCCACAGCCACCTAACACCTGTCTGCTGGTACCTATGACAACAAACACCAACAAGAAAAGAGAAAATGGCAAATGGTGGATAATACAGATCATAACAGAAAGTACTCATGAATTAATCATTTGGCTAGGTTCTAGTACCAGTCAGAGAAACATGCGGGATGTGTGTTTTACATGAGTATTATATTTATAAGGTCATACATTTTTGATCACCTAGGCATAAAAATCACAAATTTTTCTTTACAAAACATTAACACATTTCTAATTAAACTGATAGATGGGGTAATTAGAGACTATTTCCTTTCTTTTCAACATTAGAAATAGCTTGCTAAACAAGCATAAACTTACTATTTTTTACTCACTTTCTGGGGGAAAAAATCCCAAATATTTTTCATATATAAAGTTCCATTAATTTTTCTATAAAAAAGGGGCACTAATGTTTATTTTTTCAATCTGAATAGCATCAAAAAAGCAGGACAGAGAACACCACAACCTATAGCTTATACTGTTGAAAAGTCACTTGGTGATCATATTATCTTTTAATAGAAAAAATTAAATTTTAAGGCCATAAACAAGTCTGAATAATAGGTCTGCTCTCAAAATTAGAACATAACAGATGATTCTGTCATATTACTAGCAGATGCAAAAAAAAGCACAGTTTAAAGACTCAACAATACAAAAGGTCTTTTTAATATTTCAAAGCAGAAATTGATTCAGGGAGTTTACCAAAGGTACGAAAAGATCATAGCTATTAAGATTTTAAATAAGGAATATGGGTCAAAGAGAAATAATTTAACCTTAACCCCTCCCCCTGCAAAAAACAGAAGTTGATATTTTTCTTTCTCCATCAATGATATGTTTAATCTATAACCTAAAAATAAAGTTAAAAAAGGAAAAATACAAAAAAATTTTCGGAGAGTGGAAGAAACACTTAACAACAGGGAATGGTATGAAGATTATATCCCAAGTTACAAAATCTAAAGCAAAAACCACTTGAATTAAAAGATGATAGGTTAGATGAGGTGGCTCATGCCTGTAAATCCCAGCACTTTGGGAAGCCGAGGCAGGAGGATCATTTAAGCCCAGGAGTTCAAGACCAGCATGGGCAACATAGTAAGACCTCATCTCTACAAGAAAAAAAAAAAAAATTTAGCCAGGAGTGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGGTGAGAGGATTGCTTGAGCCATGGAGGTTGAGGCTGCAATGAACCATGATTGCACCACCGGATTCCAAACTGGGCAACAGAGTGAGACCCCATCTCTAATAAATAAATAAAAAGATGATGCAAGATAAGGCATTTTTTTTTCAAAGAAAATATCAAGGCTGATGGGCTACCCACCTTAAAAGAAGATAGTTTTGTTGTTTTGCTGTCCAAATACTTACTATCTGGTACCTATAGGTATGTCTACCTAAAATCTCATTTTGGACTTCAGCTCATTTAACTGGTTTTATTTAATCTCCTCTCAGTAAATACGTCATAATTAACTTTCTCCCAGTATTTTGCAAAGCAATTCTAGAAGTTTGACTCTAGCTGTTCCATTATTACCTATTACATAAGGAAAACTCTAAATGAGAACTTTGCTGCTTATTAAGTTTGCTAATTATAATACACACACTGGATATGCACCTTGGAGAAAAGAACTAAAAATCAAAACACGATGAAGTGTAGTACAGATACAAGATCATTTAATTTGGGAAGAAGGACAAATTCCGAAAATATGTGGTATGTAATCAGAGAATAATGGCTACCACTTAAGGAACCAACTGCTGAGGAGGCACCAGGCCAGGTGGTTTGGACACAGCCTCACAATCAACTTGCACAAAGGAGATTATCAGCACACTTTATAATTAGGAAACAAAAGCTCAGAATGGTTAGGTAACTTGCCAAAGGTGACATCGCTAGAAAAAAATGAGCAAGCCAGAGCTGAAATCCAGAACTGTATGTTTCCAAAGTGATTCTGGAAA
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TCTCACAAGCCACTTCCACCAATACCATCTTAATAAAGACAATCTGGGATGTAGTCCAATATGCCACATTATTTCATTATAGAGAAGAGGATATGAGCATTGATAGTTAATTGATTACAGCTGCTGTTCATTATTAGCCTTGACTTCATTCTTAGTAGGATTGTCACCACCCAAGAGAGCATGTTTTAATTTTTAGATCAAAACTACACTGCAGGGATGACTTTAGTTCTCCTAGGACCTGAGCACTGGACTCCACATAAGTGTGATGATAATAGGAAGGGAAGCAAAGAAAAGAAATGAAATGGGAAATAAGAAAATCCCAGAAACCATTTAAGGAAAGAAAGAGTCCTAGAAACCATTTGGAGGAGTTTGGGGTTGTCTAGTTACCAAAAACACCCAACAGAGTTGCAGAAAACAAGCCAACCAAAGAGCTTATTTGAAACAGAAAAAGCATTTTATTTGAAACAGAAAAAGCATATTAAAAAAATTAACAGTCATAGATAAGACCACACTAAATGCCCACTTGGAACTTCAACTTTTCCTTTGGTCTGGAATGTTTTCACATGCTTCCAAGCAAAATGTAATAGAATTCTCATCTTTGAAAAAATCCCCTGCTTCAATATAACTTCCTTGTAACAACAACAACACGATGTTTAGCATTTAAAAATCTCCAAGTGTTTTCTTCCCCTTCCTACATCTATATAAATGCAACTGGCGTTCTAAAATATTCTAAAACTCCAAACACTCCTCACAGAAGTATTGATCTGCTAACTTAACGAAAGAGTAAGAAATAAAACACTAAACTCTGGAGACTAAAGAAACATGATCTTGACTCAGTTTATGGTTCATATTTGGCTCTCTACTAAGCATTTCGCTGCTGATGAGCTGGAGAGTAGGAAGAACTTTCGGCAGTTGCTGACTTCAGGCACACTGACACTACTGTAAAGGTTATCTCCAAATCATATATAGGGAGTGTCTGAGGTTTCCTGGGCACACCCCTCTAGCAACTACCTTGCTCTTACTCTTTATATAAGCCTACTGAAACACAAGGAGCTCGGACTTATCTGGGTTCAGTATGATGAAATATCCTACATAATTTACCGACCAATATTTTTACCAATACTGATTTCTACAGAGTCAATTTACAGTTTAAATATGGAAGTGCTCATAGTACTTTCTTTCAAAATAAAGTATTTCAGTCCTACCATATCAAATAGATTAAATGCTTATTCTTCTGGAATACAAAAGCCTTAATAGTTTATTTAAATTTCTAAAGAGAATAAAGATTAACATCTAAACATAGTTTTCTACCATTTTAGGTAGTCACTTACGTTTTGGCATTAGAATTTATTACATAAAGTTCATAGATTGGGAAGGGCAGAAAACACAGGGATCAGACAAGTAACTTCATTCAAAAACAAGAGAGAGAGCAAGCTATCTAGAAATGCTATCATGCACACTCATTATAAAGGAAATTAGGGAGAATGGCTTCTTCAAAGCTCCAACTCTCCCCATGAATAGACTTTGTACTTACTGTAATGCTCACCTGGTCTCCTGCCAGAACAAATATTTTAATGTAAAATTTAATAAATGGAACTAAAGGTATTATGTCTAATTTAAAATTCCATATTGTGTAAACTATTGATATTAACATAATTGAGTTTGTAAACAATCCCTTTGTAGAAGCTAACCTTAGACATCGTATTGACCCAAAATATCTAGTGGGGCTCATCTGCAAAATGAAGCATCAATGCCTGGAATTCATTAAAAGTGTTACATGTTTAATTTCTCCTGCCCTACAGCTCCATTGTCTCGTAAAATTTTTCCTTTGATGTCCCCCACTAAAAGAATTAAAGGAATATTGTAATTGAAATGTCATCAATAATTCACAAGACCCTCCTCCACAGCAATACATCTGATGAAATATTAATTGAGCTCCACAGACTGACAGTCTGCAGAGGAGCACTTGCCTGTAATTTGAACCACGAGTCCTGATCTTGCTGTAGCTCAGACCTGCCAAGAAGGCAATTATCTGGATGGTCTTGCCCCATCCCATTTCATCTCCCAGAATTCCTCCTGCCTGCTGGCAGTGCAATTCCCACAGCCACCTAACACCTGTCTGCTGGTACCTATGACAACAAACACCAACAAGAAAAGAGAAAATGGCAAATGGTGGATAATACAGATCATAACAGAAAGTACTCATGAATTAATCATTTGGCTAGGTTCTAGTACCAGTCAGAGAAACATGCGGGATGTGTGTTTTACATGAGTATTATATTTATAAGGTCATACATTTTTGATCACCTAGGCATAAAAATCACAAATTTTTCTTTACAAAACATTAACACATTTCTAATTAAACTGATAGATGGGGTAATTAGAGACTATTTCCTTTCTTTTCAACATTAGAAATAGCTTGCTAAACAAGCATAAACTTACTATTTTTTACTCACTTTCTGGGGGAAAAAATCCCAAATATTTTTCATATATAAAGTTCCATTAATTTTTCTATAAAAAAGGGGCACTAATGTTTATTTTTTCAATCTGAATAGCATCAAAAAAGCAGGACAGAGAACACCACAACCTATAGCTTATACTGTTGAAAAGTCACTTGGTGATCATATTATCTTTTAATAGAAAAAATTAAATTTTAAGGCCATAAACAAGTCTGAATAATAGGTCTGCTCTCAAAATTAGAACATAACAGATGATTCTGTCATATTACTAGCAGATGCAAAAAAAAGCACAGTTTAAAGACTCAACAATACAAAAGGTCTTTTTAATATTTCAAAGCAGAAATTGATTCAGGGAGTTTACCAAAGGTACGAAAAGATCATAGCTATTAAGATTTTAAATAAGGAATATGGGTCAAAGAGAAATAATTTAACCTTAACCCCTCCCCCTGCAAAAAACAGAAGTTGATATTTTTCTTTCTCCATCAATGATATGTTTAATCTATAACCTAAAAATAAAGTTAAAAAAGGAAAAATACAAAAAAATTTTCGGAGAGTGGAAGAAACACTTAACAACAGGGAATGGTATGAAGATTATATCCCAAGTTACAAAATCTAAAGCAAAAACCACTTGAATTAAAAGATGATAGGTTAGATGAGGTGGCTCATGCCTGTAAATCCCAGCACTTTGGGAAGCCGAGGCAGGAGGATCATTTAAGCCCAGGAGTTCAAGACCAGCATGGGCAACATAGTAAGACCTCATCTCTACAAGAAAAAAAAAAAAAATTTAGCCAGGAGTGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGGTGAGAGGATTGCTTGAGCCATGGAGGTTGAGGCTGCAATGAACCATGATTGCACCACCGGATTCCAAACTGGGCAACAGAGTGAGACCCCATCTCTAATAAATAAATAAAAAGATGATGCAAGATAAGGCATTTTTTTTTCAAAGAAAATATCAAGGCTGATGGGCTACCCACCTTAAAAGAAGATAGTTTTGTTGTTTTGCTGTCCAAATACTTACTATCTGGTACCTATAGGTATGTCTACCTAAAATCTCATTTTGGACTTCAGCTCATTTAACTGGTTTTATTTAATCTCCTCTCAGTAAATACGTCATAATTAACTTTCTCCCAGTATTTTGCAAAGCAATTCTAGAAGTTTGACTCTAGCTGTTCCATTATTACCTATTACATAAGGAAAACTCTAAATGAGAACTTTGCTGCTTATTAAGTTTGCTAATTATAATACACACACTGGATATGCACCTTGGAGAAAAGAACTAAAAATCAAAACACGATGAAGTGTAGTACAGATACAAGATCATTTAATTTGGGAAGAAGGACAAATTCCGAAAATATGTGGTATGTAATCAGAGAATAATGGCTACCACTTAAGGAACCAACTGCTGAGGAGGCACCAGGCCAGGTGGTTTGGACACAGCCTCACAATCAACTTGCACAAAGGAGATTATCAGCACACTTTATAATTAGGAAACAAAAGCTCAGAATGGTTAGGTAACTTGCCAAAGGTGACATCGCTAGAAAAAAATGAGCAAGCCAGAGCTGAAATCCAGAACTGTATGTTTCCAAAGTGATTCTGGAAA
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Task1_train_13885
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This alteration occurs within gene ERCC6, PGBD3 (ERCC excision repair 6, chromatin remodeling factor| piggyBac transposable element derived 3) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Premature ovarian failure 11
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AAAACTCACTCTTCACTACACCCCTGCAAACTTTTCCAAGTAACAGTAAAATCAGTTTAGCAGTTCTTTGAACTATACATAATATAGGCTGAACAATCATGTAATACACATTTTATACTAGACAAATCAATGTACACAACTGCCCATACCAACACACAAAAGGGACAAAATACACATATTAATGGGAATTATCAAATATTAGTTGCCTGAGATCATATTAATAAAATAAACATGCCCTCTCCAAAACTTCAAGGAGGTCACCTACCGTGGTGCTCAAAATTCAAAACAGACCTTACTGCTCTATTGTAATATTTTTATGTTGCAAGGATCATTGTACACAGAGCAGTTTAAATCTACACCGTCTGTAAGGAAAAAGCTGTGTATCATACAGTTAAATCATTCTTAATACAGAGTGACATTTCAACCTCAAGATCATTCTCTACCTATTGCAATATCCATTTAAGAAATTCAACAACAGAGGCACAATGAGTACAATTTGATTTTTAAAAATATATTCAGGCACCAAGCTGGGTATTTAATATAGTTTGCATTCTGTAGTATGATAGGTTTTCTATTTCAGACAGCTAAGAATGCCTTACAGATTAGTCTAATTTGCTAAATTGAGATACTTGGTGTTTTACTTTTCTTATCTTCCTTTTTATGGTCTATCTGGGTAAACTTAATTGGCAAATCTGAGCAGATGAAATACCCTCAGTTAGGAGTGCAGATCTCATGGAGTAAATTAAGACTGATATAGACAATTATGCCCAGAGCCAAGAATGAAAGGTGTGTGCAGAGCAGGAAGCAGAATTAGTCTTCATTTGTGTCTCAGCTTTGTTATTTAAAAGAAGGCAATGTGCTCTCTAAGAAAACATCTTTAACCCATTTATGTCTGAGGTTACAATTTTTTGAATTTTTGCATGAAATTCATATATGTTACCTAGAAAAATTCAAGGAACAAAAATTTGAAGAGAAAAAAAAATTTATTATGTTCCATTGTTATGTGACGTTCCAAAATTGGAACACTAGGCAAAACCACTGCTACACTGTACATAATGTATAAAACTATGTTTCTTATCTCAGGAGGTGGTGACACCTGCTATTCAGTGTGATATTCAACGGAACACTTCACATGTAAGGCAACATCACATTTTTCACATCGAAAAGTTGTGTTCTTATGACATTCAGCGCATCGCGTTTGCTTTCCCTGTTTGACTATCACATGATTTATGCCATCATAACGTGAGTCAATGTTACGCTTCTGAGGTCTTCCTTTTTGGCCAGGTTCTGGAGGATGACCATGGGTCTCCAGATAATGGCATACCACACGTCGACGAAACTCCAGAAAATCCACTGGTTTCTCATCATATGTTTTATGCAATTGCCAAGCATTTTGTAAGACCAGTTCGAAACAGAACAAAAGAGGGCTTGAATACCATTTCTTTCCACGGATTGATGCCCGATACTTATCAATGTTTTCATCAGCTCTGTCTACGCCTCCCATGAACTGGTTATACACTTTGATCATGTTTGGCTGCTGAACTTGTATCTTCTTTTTCAGTTTCTGGGAGTAACGACTGACAAGACACAGGGGATGGATACCAGCACCAGATGAGGCAACAGTGACAACACTGTTATCATTCCATCTGCAGACAATATTGCCTTTGCCATCAATTCGATAATCAAATGTGCCTCTTTCTTTTTTCTTTAAAGCTACATCTGATTCCAGTGGAACTCTGTCAATGTGATCCTTTCTCACTGTACCTGTTGCCTGATGTCCCATTGAACTGAGCTTATCAAGAAGTGCAATACTGGTGAAAAAGTTATTGAATACAAAATGGTATTGTCCAGGGTGTGCCTCTGTAAGTGCCTCACTAAACTGAAGGACAAGTGACGCACCGACACCATATTCCTCATGTTTAGTATTTGGGTTTTTACCCTGATACGGCTGAAACCAGCAAATGTAGCCCAGACAGGTGGCACCACACCAAAACTTATAGCCAAACCGAATGGGCTTTCCCCGAATAAATTGTTTGCACCCGTGACGACCAAAATAAGGAACCATGAATTCATCAAAGCTGAAATATGTTTCATTTGGAACAAATTTCATGCATCTCTCATTAAGTTTGCTTATGAGAGGTCGCAATTTGGAAAATTTGTCCACTGGATCCAAATTTGCATTGTCAGCAACATGCAAATTAGAAAATATAGTTTCAAACCGGTCACGTCTCATGGCAGCACTAACCAGTACATTATGCACATCTGTTCTTTGTTCCCAAAACATACGCCTTCTAGGAACTGAGACATAACCACTCAGAAAAATAATTCCCAGAAAACATTTGAATTCAGAGCTAGTCAAGCCAAGATGTACACCTTTACTGCAAGCATATAAGTTGGAGTACTTGACAATGAGTTCAATGACCTCGTCATCAAGAAAAAGTTCAAGAATTTCTGTGGGAGTTCTCATTACGGTGAAGAAATCGTTTGGTGGTGCTGTAACTCTACCTGCTACGGGTTGTACAGTTAGGTCGGCTTTTTTCCATTTGCAAAGAATTTTTGTCATTTTCCTCCTCCTTGATGGTGGAGGTTGCTGCACAGTAAACGTAGATGGAACTTCATCAGGAGAGTCATCTTTAGGTGCGTATGAGGGATCATCTGAGTCAGACTCAGCATCAGAGCCATCTTGAATAAGATACGCAGCTGTGTGCAACAAAGAACCTGGCAGATTATTTATTGTTCCACCTTCTTCATCTCCTGATTCCTCATCAGAAACAGGTGCTGTAGCATTTTCAGGTGGTTGTATCACTATAGCACTTGCTTCTATGCTGTCATCTGTCTCTAAAAGGTCAGTTATTTCATGTAAACTTAGTGTTCGAGGCATCTTGGGACTAAAACGGAAAAAAGGTATTATTAGTCCTAGTGGTAGTGGTTTTGCCTAGTGTTCCAAAAATGGAACATGAAAAATGTCAAACCCATAACTAATGCAATAATAATACTTTCTGTATTTTCTTTTTACCGCACAATAGCATAACTAGTAGAGAAGTTATTTCTTAAAAATTACTAGTATAGGATGTAGTGCAGTAAAGTTATATGTACCTGTCTTTGGATACTCAAAAATGTTTCTGAAAACTCACATCACTTTTTGACAAGCTCCCAGCATGCCAGTATCTGTAGCAGTAACTAACTCTGTGCACCAAGTGATAACATGTACCCTCAGGAGGCAGACATGTGTGAAAAATCAGACCTTGGCAATGACCTTGAGCAGTAGGGCATGAATAACTCCCACATGCTTAGCGTTCCAATAATGGAACACTAGGCATAAATAGGTTTTAAAAGTGTAACTTTTTCTTTCAACTTATAGATTCCTAAAAGAAAATGAACACAGTCTTCTTTCTTTTTTTTTTTTCTCTCAGGCTCCAGTGATCCACCCACCTCAGCCTCCTGGGTAGCTGGGACTACAGGCGCACATCACCACACCCAGCTAACTTTTTCTATTTTTGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTGAGCTCAAGCAATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTATGAGCCATTGTGCCCGGCCAGGCTTATTTCTTGAGAAAAATGAACTCTCAGAGATGTTAAGAACATTCTTAAAATAATTGTATTTAGGTTTCTGGATAAAATCTCAAACTTTTACTAAATTCAGATTTTGGGAGAGTTTTGTTTTTTCTCTTTAATTTGGGCTTTAAAAAAAAGGCACAATCAAATCAACCTCCACATTGTGAGTTGGCCTTTGCCGAAGCACAGCCTAAAATTGCTAAATCCTCATCGGGTGCAAACCAGGATCCAACTGAAGGACAGACAGGACAATCCCAGTGCAAACAGGTGCTAGACAGAAGGGAGAAGTTCCCAGAAGACAATAAAATGGAGACAGGCTGTGAGGTTGGTGGTTCTCAGGGCACTGCCTTTAGAAGCATTTCAGGATAGGAATGGGACATTGGGTTGGAGTTGGCCCCCATCAAGTGGAGGGAGAAACCAGGCACTGAAACAATGCTTGTCCGAGTCTGCTGCAGCAAACCAAGCTGCG
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AAAACTCACTCTTCACTACACCCCTGCAAACTTTTCCAAGTAACAGTAAAATCAGTTTAGCAGTTCTTTGAACTATACATAATATAGGCTGAACAATCATGTAATACACATTTTATACTAGACAAATCAATGTACACAACTGCCCATACCAACACACAAAAGGGACAAAATACACATATTAATGGGAATTATCAAATATTAGTTGCCTGAGATCATATTAATAAAATAAACATGCCCTCTCCAAAACTTCAAGGAGGTCACCTACCGTGGTGCTCAAAATTCAAAACAGACCTTACTGCTCTATTGTAATATTTTTATGTTGCAAGGATCATTGTACACAGAGCAGTTTAAATCTACACCGTCTGTAAGGAAAAAGCTGTGTATCATACAGTTAAATCATTCTTAATACAGAGTGACATTTCAACCTCAAGATCATTCTCTACCTATTGCAATATCCATTTAAGAAATTCAACAACAGAGGCACAATGAGTACAATTTGATTTTTAAAAATATATTCAGGCACCAAGCTGGGTATTTAATATAGTTTGCATTCTGTAGTATGATAGGTTTTCTATTTCAGACAGCTAAGAATGCCTTACAGATTAGTCTAATTTGCTAAATTGAGATACTTGGTGTTTTACTTTTCTTATCTTCCTTTTTATGGTCTATCTGGGTAAACTTAATTGGCAAATCTGAGCAGATGAAATACCCTCAGTTAGGAGTGCAGATCTCATGGAGTAAATTAAGACTGATATAGACAATTATGCCCAGAGCCAAGAATGAAAGGTGTGTGCAGAGCAGGAAGCAGAATTAGTCTTCATTTGTGTCTCAGCTTTGTTATTTAAAAGAAGGCAATGTGCTCTCTAAGAAAACATCTTTAACCCATTTATGTCTGAGGTTACAATTTTTTGAATTTTTGCATGAAATTCATATATGTTACCTAGAAAAATTCAAGGAACAAAAATTTGAAGAGAAAAAAAAATTTATTATGTTCCATTGTTATGTGACGTTCCAAAATTGGAACACTAGGCAAAACCACTGCTACACTGTACATAATGTATAAAACTATGTTTCTTATCTCAGGAGGTGGTGACACCTGCTATTCAGTGTGATATTCAACGGAACACTTCACATGTAAGGCAACATCACATTTTTCACATCGAAAAGTTGTGTTCTTATGACATTCAGCGCATCGCGTTTGCTTTCCCTGTTTGACTATCACATGATTTATGCCATCATAACGTGAGTCAATGTTACGCTTCTGAGGTCTTCCTTTTTGGCCAGGTTCTGGAGGATGACCATGGGTCTCCAGATAATGGCATACCACACGTCGACGAAACTCCAGAAAATCCACTGGTTTCTCATCATATGTTTTATGCAATTGCCAAGCATTTTGTAAGACCAGTTCGAAACAGAACAAAAGAGGGCTTGAATACCATTTCTTTCCACGGATTGATGCCCGATACTTATCAATGTTTTCATCAGCTCTGTCTACGCCTCCCATGAACTGGTTATACACTTTGATCATGTTTGGCTGCTGAACTTGTATCTTCTTTTTCAGTTTCTGGGAGTAACGACTGACAAGACACAGGGGATGGATACCAGCACCAGATGAGGCAACAGTGACAACACTGTTATCATTCCATCTGCAGACAATATTGCCTTTGCCATCAATTCGATAATCAAATGTGCCTCTTTCTTTTTTCTTTAAAGCTACATCTGATTCCAGTGGAACTCTGTCAATGTGATCCTTTCTCACTGTACCTGTTGCCTGATGTCCCATTGAACTGAGCTTATCAAGAAGTGCAATACTGGTGAAAAAGTTATTGAATACAAAATGGTATTGTCCAGGGTGTGCCTCTGTAAGTGCCTCACTAAACTGAAGGACAAGTGACGCACCGACACCATATTCCTCATGTTTAGTATTTGGGTTTTTACCCTGATACGGCTGAAACCAGCAAATGTAGCCCAGACAGGTGGCACCACACCAAAACTTATAGCCAAACCGAATGGGCTTTCCCCGAATAAATTGTTTGCACCCGTGACGATCAAAATAAGGAACCATGAATTCATCAAAGCTGAAATATGTTTCATTTGGAACAAATTTCATGCATCTCTCATTAAGTTTGCTTATGAGAGGTCGCAATTTGGAAAATTTGTCCACTGGATCCAAATTTGCATTGTCAGCAACATGCAAATTAGAAAATATAGTTTCAAACCGGTCACGTCTCATGGCAGCACTAACCAGTACATTATGCACATCTGTTCTTTGTTCCCAAAACATACGCCTTCTAGGAACTGAGACATAACCACTCAGAAAAATAATTCCCAGAAAACATTTGAATTCAGAGCTAGTCAAGCCAAGATGTACACCTTTACTGCAAGCATATAAGTTGGAGTACTTGACAATGAGTTCAATGACCTCGTCATCAAGAAAAAGTTCAAGAATTTCTGTGGGAGTTCTCATTACGGTGAAGAAATCGTTTGGTGGTGCTGTAACTCTACCTGCTACGGGTTGTACAGTTAGGTCGGCTTTTTTCCATTTGCAAAGAATTTTTGTCATTTTCCTCCTCCTTGATGGTGGAGGTTGCTGCACAGTAAACGTAGATGGAACTTCATCAGGAGAGTCATCTTTAGGTGCGTATGAGGGATCATCTGAGTCAGACTCAGCATCAGAGCCATCTTGAATAAGATACGCAGCTGTGTGCAACAAAGAACCTGGCAGATTATTTATTGTTCCACCTTCTTCATCTCCTGATTCCTCATCAGAAACAGGTGCTGTAGCATTTTCAGGTGGTTGTATCACTATAGCACTTGCTTCTATGCTGTCATCTGTCTCTAAAAGGTCAGTTATTTCATGTAAACTTAGTGTTCGAGGCATCTTGGGACTAAAACGGAAAAAAGGTATTATTAGTCCTAGTGGTAGTGGTTTTGCCTAGTGTTCCAAAAATGGAACATGAAAAATGTCAAACCCATAACTAATGCAATAATAATACTTTCTGTATTTTCTTTTTACCGCACAATAGCATAACTAGTAGAGAAGTTATTTCTTAAAAATTACTAGTATAGGATGTAGTGCAGTAAAGTTATATGTACCTGTCTTTGGATACTCAAAAATGTTTCTGAAAACTCACATCACTTTTTGACAAGCTCCCAGCATGCCAGTATCTGTAGCAGTAACTAACTCTGTGCACCAAGTGATAACATGTACCCTCAGGAGGCAGACATGTGTGAAAAATCAGACCTTGGCAATGACCTTGAGCAGTAGGGCATGAATAACTCCCACATGCTTAGCGTTCCAATAATGGAACACTAGGCATAAATAGGTTTTAAAAGTGTAACTTTTTCTTTCAACTTATAGATTCCTAAAAGAAAATGAACACAGTCTTCTTTCTTTTTTTTTTTTCTCTCAGGCTCCAGTGATCCACCCACCTCAGCCTCCTGGGTAGCTGGGACTACAGGCGCACATCACCACACCCAGCTAACTTTTTCTATTTTTGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTGAGCTCAAGCAATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTATGAGCCATTGTGCCCGGCCAGGCTTATTTCTTGAGAAAAATGAACTCTCAGAGATGTTAAGAACATTCTTAAAATAATTGTATTTAGGTTTCTGGATAAAATCTCAAACTTTTACTAAATTCAGATTTTGGGAGAGTTTTGTTTTTTCTCTTTAATTTGGGCTTTAAAAAAAAGGCACAATCAAATCAACCTCCACATTGTGAGTTGGCCTTTGCCGAAGCACAGCCTAAAATTGCTAAATCCTCATCGGGTGCAAACCAGGATCCAACTGAAGGACAGACAGGACAATCCCAGTGCAAACAGGTGCTAGACAGAAGGGAGAAGTTCCCAGAAGACAATAAAATGGAGACAGGCTGTGAGGTTGGTGGTTCTCAGGGCACTGCCTTTAGAAGCATTTCAGGATAGGAATGGGACATTGGGTTGGAGTTGGCCCCCATCAAGTGGAGGGAGAAACCAGGCACTGAAACAATGCTTGTCCGAGTCTGCTGCAGCAAACCAAGCTGCG
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Task1_train_13886
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Here is a genetic alteration in CHAT (choline O-acetyltransferase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Familial infantile myasthenia
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GGAAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGATGTGCCTATTTGAGGCCAGTTGTTCCCCCATTTAATTCTCTCTGTGTTCCTCTCAGGTAGGAATTGTTATTTATGTCCTATGGATGAGGAGCAGAGGCTTGGAGAGATTCGGAGAGGAAGGACATCCACTGCATCCCCACCCCTGCCCCTAACACCCACATGAAACAAAATTCCCTGCCTGGGTTTTATAAGTAGGAGGGACTTATAAGAAGCTCAGGGCATGAATCATCTTCTGAGGAACCCTCTTTTAGAATTCTAGTCATTAGGGCAGCACTGAATTATGTCTCTCATCCAAAACCATCTTTTATCCTTCCAAATCTCTCCCTAAGAGTGCCCCCTTCAGGTCCAGAGATCAATCAGATTCTGGAGCCCCAGCTGGGAACAATCTCTAAATTAAGAGTCACCAGCAGCCAACAATATCAATAACAGGACTATTTCATCTTAGATCCATCCTTTATGGCTTAAAAGCACTTTCATATCTATTTTCTGTTTGATCCTATGAGAGATAGGGGTTACTACTCCCATTCTACAGAGGAAGAAACTGAGGCACAGAGGGAGGCTGATTTGCCCAAGTTTGCAGAGCTGGTCAGTGGCAGGGTCAGGGTAGAAACCCAGGTCTGTCTGATGCCAATATCACCGTATTTTCCTCTGCACTTTATCCCTTTCTGGGGACAGAGCACAATGAGGTCAGGGACGCCAAACAGGAACTTCCTAAATTCATAATTTTGCTGAGCTGAGCCCTAGAAATGGAGGGGTCCCAGGGTAGAGAACAACACAGGGGCAGAACAATACAGATACTAGGGACCAACTTGGGGACAGGCATGGGGCGCACATACTAGAGGCACAATGCCTATGAACCCTTTCTTCCAGGGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGCCACGTACCTGCAGTGCATGCGACACTTGGTGTCTGAGGAGCAGTTCAGGAAGAGCCAGGCCATTGTGCAGCAGTTTGGGGCCCCTGGTGGCCTCGGCGAGACCCTGCAGCAGAAACTCCTGGAGCGGCAGGAGAAGACAGCCAACTGGGTAAGAGGGGCAGACAAGGAACCCATAGAAGAGGGGCGGGAGGCAGACCTGGAGACAGAGGGATCTCGGTGAGAGGCAGGTAGGGGACAAAGACAGGGCAGAAGGAGAGATGAGGGACAGGGATGGGGGATAGGTGTGGGAACAGGCAGGTGGCATGGATTGGAGGACAGGAAGGGACAAGGATGAGAAACAAACAAGATGAGGAATGGGAAATACGGATAGAGAAAGAGGCGGACAAATCGGGGACAGGAATTGGGACAGATGAGGACAGAGATCGCATTAGGAAAGAAGAGAGGGTGAAAGGCAGGAAGAAGACACCTGTAAGGACAGGCAGAGGACAGCGATGTAGCACCAAGCCACCAGGATGGGGACTGGGACAGAAGAAAGGAGACAGGAGGGCACAAAGGTGAAGGACAGGCCTGGTGGACTGGGAAGCTCCTGGCACATACCTGGGGCTTAGCATATATTTGTGGAATGAATGAATTAATGCTCTGGTGAAGTGTCCCGATTTTCTCTCGGGGCTGTCAGGATGGGACTGTTTGGGGGGATGTGACGGCCTTCCCTGCCCTCCCCGGCAGGTGTCTGAGTACTGGCTGAATGACATGTATCTCAACAACCGCCTGGCCCTGCCTGTCAACTCCAGCCCTGCCGTGATCTTTGCTCGGCAGCACTTCCCTGGCACCGATGACCAGCTGAGGTGAGGCCTTGGTGCTCCTAGCTCATAACCTGGGGACCCACCCAAGGCAGGGGCCCTTACCCCAGTGCCAGCAAAGAAAGGCCAAAGCTGGAGCCTCGGCTGAGCTTCCTGGGGTCAAATGCCCCGAGACAGTGGACGTCCAGGCCATCAGGTGGGGAGCAAGGTTAGGTGTGGCTGCACTCGAGTGACAATCACACAATTAGCCTTAGTCTATATTTATCTTGCAGTGGAATGGACACTCATGGAGGTCATGGGTCCAAATATCCCCACAGCCTCCACCTGGCTGAGGCCCTGGGAGGAGGCGTGTGTCCCTGGACCACGCCAGTACTTGTCCCTGGGAAACACTGCCCCAGGCTGTCTGAGAGGGCCTCTGCTTCCTTCCAGAGCCCCCAGCTCTAAACAGAGGCCCCAGAAGGCTGGAAACAATTCCTCCCTGCCAGCAGCCAGAGCCTGTGCCATCTGCTGTAATTTCAGAGCTCACTGAGCCGTTGGAAGGGCCTCTGGCCGCTAATGACAATGGAGGATGGGTGCAGGGAGAAAGGGTTTCCCTTCTGGAGTCACTCAGAGTCTGGTCTTAAGACCTGAGTGGGGCAAATGGTGGGGACGGTTTAGAGGGAGGGCAGACCAAAGTGGCCCGAGGACAAGAGGCAGGGCCCACCTCTCCTCTGGGCAGGGCTTAGCCATGCTAGGAAGACCTCCCCACCCCACCCTACCAGCTGGCCAGCCTTCCCTCCCACTGTAGCTGGGGTCTCCCCAGGGAAGAAGGAAGGTGTGGACAGATGAATGACTTCTGAAAACAGTTCTCACAATTGCATCTGAGGGGGTATTTTCCTCCTGGTGCAATTAAGCCAGGCCCAGAATCCTGGTATGACAGTTCCCGCTGCTCGTTTCTCCAGTGCCTTTCCCCAAGCACTCGATTTCCTTTTCATTAGTACCGGGGGGTGGGAGGAAAGGGACCAAATTACTGGCTTTTCCCAGGAGAAAATTTTCCACAAGGCCAGGGGTCCTGCCCTGTCCAGACCCAGGGCTGGCTTTTCCAAGGAAGAACTCCACCCTTCACCCTCCACCCCTTCTGGCCTGCTCTGTGGCCTCTCCTAGCTTCCGTCTCCCTCTCTGCTCCCTCTCCTCTTCAAGATGATTCCAGTTTCCTCTCCCTTCCCCAAGAGCTACTCGACCCCCAGTTCTCACCAAAGGACCATTTTGAATCCAAGGCTTGTGGTGGGCTCTCGGCATGGGGCTGGGGGGCAAGAACCACATCTGATTAGTGCAGGAACCACATCTGATTAGTGCACACGGGGGCGGCATACAATGGGCGATCACAGAGTTTGGCAGTGGGGATGAGGGAGGGAGGAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGGGAGGGAGGAAGCCAGGCCCTGGGAGGAAGGGCTCAGGCCTCCCTTCTCCCTGCAGGTTTGCAGCCAGCCTCATCTCTGGTGTACTCAGCTACAAGGCCCTGCTGGACAGGTAGGACTGGGAGGGTGGTGCCCTGTTCCAGCACAGTCTGCCTATGCGTCTATCTCCCTTGCAGGGACCTTGTCTTTTTCCAGCTCTGTATTCCCATTCCTGGCTCCTGGCACAGAGCAGATGTCCCTGCCCCAACCCACTCCCCCACCATCAGGATGACCTTTAGCCTGGCTGGCCTGTCTGTTAACTGTTCCTTTTCCTGTGGCAAGCACCATCCTTCCTTGATCTTTTAAAAATGTCTCCTCCCTCCACACATACGTGCACAGGTGGAGTGAATTCACTTGAAGCTGGAGAACACATAGGAAGGCGGGGAAGGAAGAGTTGTTAGAGTAAGGTGATGGGAGTTCTGCTTTGCCACTTGGAGGAATGGTGTCTCCAGCGGGAGACTGTATCCTCAATCCCACCAAGCTCAGTGGACATGAGGCTGTTCTGACAGATGGA
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GGAAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGATGTGCCTATTTGAGGCCAGTTGTTCCCCCATTTAATTCTCTCTGTGTTCCTCTCAGGTAGGAATTGTTATTTATGTCCTATGGATGAGGAGCAGAGGCTTGGAGAGATTCGGAGAGGAAGGACATCCACTGCATCCCCACCCCTGCCCCTAACACCCACATGAAACAAAATTCCCTGCCTGGGTTTTATAAGTAGGAGGGACTTATAAGAAGCTCAGGGCATGAATCATCTTCTGAGGAACCCTCTTTTAGAATTCTAGTCATTAGGGCAGCACTGAATTATGTCTCTCATCCAAAACCATCTTTTATCCTTCCAAATCTCTCCCTAAGAGTGCCCCCTTCAGGTCCAGAGATCAATCAGATTCTGGAGCCCCAGCTGGGAACAATCTCTAAATTAAGAGTCACCAGCAGCCAACAATATCAATAACAGGACTATTTCATCTTAGATCCATCCTTTATGGCTTAAAAGCACTTTCATATCTATTTTCTGTTTGATCCTATGAGAGATAGGGGTTACTACTCCCATTCTACAGAGGAAGAAACTGAGGCACAGAGGGAGGCTGATTTGCCCAAGTTTGCAGAGCTGGTCAGTGGCAGGGTCAGGGTAGAAACCCAGGTCTGTCTGATGCCAATATCACCGTATTTTCCTCTGCACTTTATCCCTTTCTGGGGACAGAGCACAATGAGGTCAGGGACGCCAAACAGGAACTTCCTAAATTCATAATTTTGCTGAGCTGAGCCCTAGAAATGGAGGGGTCCCAGGGTAGAGAACAACACAGGGGCAGAACAATACAGATACTAGGGACCAACTTGGGGACAGGCATGGGGCGCACATACTAGAGGCACAATGCCTATGAACCCTTTCTTCCAGGGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGCCACGTACCTGCAGTGCATGCGACACTTGGTGTCTGAGGAGCAGTTCAGGAAGAGCCAGGCCATTGTGCAGCAGTTTGGGGCCCCTGGTGGCCTCGGCGAGACCCTGCAGCAGAAACTCCTGGAGCGGCAGGAGAAGACAGCCAACTGGGTAAGAGGGGCAGACAAGGAACCCATAGAAGAGGGGCGGGAGGCAGACCTGGAGACAGAGGGATCTCGGTGAGAGGCAGGTAGGGGACAAAGACAGGGCAGAAGGAGAGATGAGGGACAGGGATGGGGGATAGGTGTGGGAACAGGCAGGTGGCATGGATTGGAGGACAGGAAGGGACAAGGATGAGAAACAAACAAGATGAGGAATGGGAAATACGGATAGAGAAAGAGGCGGACAAATCGGGGACAGGAATTGGGACAGATGAGGACAGAGATCGCATTAGGAAAGAAGAGAGGGTGAAAGGCAGGAAGAAGACACCTGTAAGGACAGGCAGAGGACAGCGATGTAGCACCAAGCCACCAGGATGGGGACTGGGACAGAAGAAAGGAGACAGGAGGGCACAAAGGTGAAGGACAGGCCTGGTGGACTGGGAAGCTCCTGGCACATACCTGGGGCTTAGCATATATTTGTGGAATGAATGAATTAATGCTCTGGTGAAGTGTCCCGATTTTCTCTCGGGGCTGTCAGGATGGGACTGTTTGGGGGGATGTGACGGCCTTCCCTGCCCTCCCCGGCAGGTGTCTGAGTACTGGCTGAATGACATGTATCTCAACAACCGCCTGGCCCCGCCTGTCAACTCCAGCCCTGCCGTGATCTTTGCTCGGCAGCACTTCCCTGGCACCGATGACCAGCTGAGGTGAGGCCTTGGTGCTCCTAGCTCATAACCTGGGGACCCACCCAAGGCAGGGGCCCTTACCCCAGTGCCAGCAAAGAAAGGCCAAAGCTGGAGCCTCGGCTGAGCTTCCTGGGGTCAAATGCCCCGAGACAGTGGACGTCCAGGCCATCAGGTGGGGAGCAAGGTTAGGTGTGGCTGCACTCGAGTGACAATCACACAATTAGCCTTAGTCTATATTTATCTTGCAGTGGAATGGACACTCATGGAGGTCATGGGTCCAAATATCCCCACAGCCTCCACCTGGCTGAGGCCCTGGGAGGAGGCGTGTGTCCCTGGACCACGCCAGTACTTGTCCCTGGGAAACACTGCCCCAGGCTGTCTGAGAGGGCCTCTGCTTCCTTCCAGAGCCCCCAGCTCTAAACAGAGGCCCCAGAAGGCTGGAAACAATTCCTCCCTGCCAGCAGCCAGAGCCTGTGCCATCTGCTGTAATTTCAGAGCTCACTGAGCCGTTGGAAGGGCCTCTGGCCGCTAATGACAATGGAGGATGGGTGCAGGGAGAAAGGGTTTCCCTTCTGGAGTCACTCAGAGTCTGGTCTTAAGACCTGAGTGGGGCAAATGGTGGGGACGGTTTAGAGGGAGGGCAGACCAAAGTGGCCCGAGGACAAGAGGCAGGGCCCACCTCTCCTCTGGGCAGGGCTTAGCCATGCTAGGAAGACCTCCCCACCCCACCCTACCAGCTGGCCAGCCTTCCCTCCCACTGTAGCTGGGGTCTCCCCAGGGAAGAAGGAAGGTGTGGACAGATGAATGACTTCTGAAAACAGTTCTCACAATTGCATCTGAGGGGGTATTTTCCTCCTGGTGCAATTAAGCCAGGCCCAGAATCCTGGTATGACAGTTCCCGCTGCTCGTTTCTCCAGTGCCTTTCCCCAAGCACTCGATTTCCTTTTCATTAGTACCGGGGGGTGGGAGGAAAGGGACCAAATTACTGGCTTTTCCCAGGAGAAAATTTTCCACAAGGCCAGGGGTCCTGCCCTGTCCAGACCCAGGGCTGGCTTTTCCAAGGAAGAACTCCACCCTTCACCCTCCACCCCTTCTGGCCTGCTCTGTGGCCTCTCCTAGCTTCCGTCTCCCTCTCTGCTCCCTCTCCTCTTCAAGATGATTCCAGTTTCCTCTCCCTTCCCCAAGAGCTACTCGACCCCCAGTTCTCACCAAAGGACCATTTTGAATCCAAGGCTTGTGGTGGGCTCTCGGCATGGGGCTGGGGGGCAAGAACCACATCTGATTAGTGCAGGAACCACATCTGATTAGTGCACACGGGGGCGGCATACAATGGGCGATCACAGAGTTTGGCAGTGGGGATGAGGGAGGGAGGAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGGGAGGGAGGAAGCCAGGCCCTGGGAGGAAGGGCTCAGGCCTCCCTTCTCCCTGCAGGTTTGCAGCCAGCCTCATCTCTGGTGTACTCAGCTACAAGGCCCTGCTGGACAGGTAGGACTGGGAGGGTGGTGCCCTGTTCCAGCACAGTCTGCCTATGCGTCTATCTCCCTTGCAGGGACCTTGTCTTTTTCCAGCTCTGTATTCCCATTCCTGGCTCCTGGCACAGAGCAGATGTCCCTGCCCCAACCCACTCCCCCACCATCAGGATGACCTTTAGCCTGGCTGGCCTGTCTGTTAACTGTTCCTTTTCCTGTGGCAAGCACCATCCTTCCTTGATCTTTTAAAAATGTCTCCTCCCTCCACACATACGTGCACAGGTGGAGTGAATTCACTTGAAGCTGGAGAACACATAGGAAGGCGGGGAAGGAAGAGTTGTTAGAGTAAGGTGATGGGAGTTCTGCTTTGCCACTTGGAGGAATGGTGTCTCCAGCGGGAGACTGTATCCTCAATCCCACCAAGCTCAGTGGACATGAGGCTGTTCTGACAGATGGA
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Task1_train_13887
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Gene CHAT (choline O-acetyltransferase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Familial infantile myasthenia
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AAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGATGTGCCTATTTGAGGCCAGTTGTTCCCCCATTTAATTCTCTCTGTGTTCCTCTCAGGTAGGAATTGTTATTTATGTCCTATGGATGAGGAGCAGAGGCTTGGAGAGATTCGGAGAGGAAGGACATCCACTGCATCCCCACCCCTGCCCCTAACACCCACATGAAACAAAATTCCCTGCCTGGGTTTTATAAGTAGGAGGGACTTATAAGAAGCTCAGGGCATGAATCATCTTCTGAGGAACCCTCTTTTAGAATTCTAGTCATTAGGGCAGCACTGAATTATGTCTCTCATCCAAAACCATCTTTTATCCTTCCAAATCTCTCCCTAAGAGTGCCCCCTTCAGGTCCAGAGATCAATCAGATTCTGGAGCCCCAGCTGGGAACAATCTCTAAATTAAGAGTCACCAGCAGCCAACAATATCAATAACAGGACTATTTCATCTTAGATCCATCCTTTATGGCTTAAAAGCACTTTCATATCTATTTTCTGTTTGATCCTATGAGAGATAGGGGTTACTACTCCCATTCTACAGAGGAAGAAACTGAGGCACAGAGGGAGGCTGATTTGCCCAAGTTTGCAGAGCTGGTCAGTGGCAGGGTCAGGGTAGAAACCCAGGTCTGTCTGATGCCAATATCACCGTATTTTCCTCTGCACTTTATCCCTTTCTGGGGACAGAGCACAATGAGGTCAGGGACGCCAAACAGGAACTTCCTAAATTCATAATTTTGCTGAGCTGAGCCCTAGAAATGGAGGGGTCCCAGGGTAGAGAACAACACAGGGGCAGAACAATACAGATACTAGGGACCAACTTGGGGACAGGCATGGGGCGCACATACTAGAGGCACAATGCCTATGAACCCTTTCTTCCAGGGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGCCACGTACCTGCAGTGCATGCGACACTTGGTGTCTGAGGAGCAGTTCAGGAAGAGCCAGGCCATTGTGCAGCAGTTTGGGGCCCCTGGTGGCCTCGGCGAGACCCTGCAGCAGAAACTCCTGGAGCGGCAGGAGAAGACAGCCAACTGGGTAAGAGGGGCAGACAAGGAACCCATAGAAGAGGGGCGGGAGGCAGACCTGGAGACAGAGGGATCTCGGTGAGAGGCAGGTAGGGGACAAAGACAGGGCAGAAGGAGAGATGAGGGACAGGGATGGGGGATAGGTGTGGGAACAGGCAGGTGGCATGGATTGGAGGACAGGAAGGGACAAGGATGAGAAACAAACAAGATGAGGAATGGGAAATACGGATAGAGAAAGAGGCGGACAAATCGGGGACAGGAATTGGGACAGATGAGGACAGAGATCGCATTAGGAAAGAAGAGAGGGTGAAAGGCAGGAAGAAGACACCTGTAAGGACAGGCAGAGGACAGCGATGTAGCACCAAGCCACCAGGATGGGGACTGGGACAGAAGAAAGGAGACAGGAGGGCACAAAGGTGAAGGACAGGCCTGGTGGACTGGGAAGCTCCTGGCACATACCTGGGGCTTAGCATATATTTGTGGAATGAATGAATTAATGCTCTGGTGAAGTGTCCCGATTTTCTCTCGGGGCTGTCAGGATGGGACTGTTTGGGGGGATGTGACGGCCTTCCCTGCCCTCCCCGGCAGGTGTCTGAGTACTGGCTGAATGACATGTATCTCAACAACCGCCTGGCCCTGCCTGTCAACTCCAGCCCTGCCGTGATCTTTGCTCGGCAGCACTTCCCTGGCACCGATGACCAGCTGAGGTGAGGCCTTGGTGCTCCTAGCTCATAACCTGGGGACCCACCCAAGGCAGGGGCCCTTACCCCAGTGCCAGCAAAGAAAGGCCAAAGCTGGAGCCTCGGCTGAGCTTCCTGGGGTCAAATGCCCCGAGACAGTGGACGTCCAGGCCATCAGGTGGGGAGCAAGGTTAGGTGTGGCTGCACTCGAGTGACAATCACACAATTAGCCTTAGTCTATATTTATCTTGCAGTGGAATGGACACTCATGGAGGTCATGGGTCCAAATATCCCCACAGCCTCCACCTGGCTGAGGCCCTGGGAGGAGGCGTGTGTCCCTGGACCACGCCAGTACTTGTCCCTGGGAAACACTGCCCCAGGCTGTCTGAGAGGGCCTCTGCTTCCTTCCAGAGCCCCCAGCTCTAAACAGAGGCCCCAGAAGGCTGGAAACAATTCCTCCCTGCCAGCAGCCAGAGCCTGTGCCATCTGCTGTAATTTCAGAGCTCACTGAGCCGTTGGAAGGGCCTCTGGCCGCTAATGACAATGGAGGATGGGTGCAGGGAGAAAGGGTTTCCCTTCTGGAGTCACTCAGAGTCTGGTCTTAAGACCTGAGTGGGGCAAATGGTGGGGACGGTTTAGAGGGAGGGCAGACCAAAGTGGCCCGAGGACAAGAGGCAGGGCCCACCTCTCCTCTGGGCAGGGCTTAGCCATGCTAGGAAGACCTCCCCACCCCACCCTACCAGCTGGCCAGCCTTCCCTCCCACTGTAGCTGGGGTCTCCCCAGGGAAGAAGGAAGGTGTGGACAGATGAATGACTTCTGAAAACAGTTCTCACAATTGCATCTGAGGGGGTATTTTCCTCCTGGTGCAATTAAGCCAGGCCCAGAATCCTGGTATGACAGTTCCCGCTGCTCGTTTCTCCAGTGCCTTTCCCCAAGCACTCGATTTCCTTTTCATTAGTACCGGGGGGTGGGAGGAAAGGGACCAAATTACTGGCTTTTCCCAGGAGAAAATTTTCCACAAGGCCAGGGGTCCTGCCCTGTCCAGACCCAGGGCTGGCTTTTCCAAGGAAGAACTCCACCCTTCACCCTCCACCCCTTCTGGCCTGCTCTGTGGCCTCTCCTAGCTTCCGTCTCCCTCTCTGCTCCCTCTCCTCTTCAAGATGATTCCAGTTTCCTCTCCCTTCCCCAAGAGCTACTCGACCCCCAGTTCTCACCAAAGGACCATTTTGAATCCAAGGCTTGTGGTGGGCTCTCGGCATGGGGCTGGGGGGCAAGAACCACATCTGATTAGTGCAGGAACCACATCTGATTAGTGCACACGGGGGCGGCATACAATGGGCGATCACAGAGTTTGGCAGTGGGGATGAGGGAGGGAGGAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGGGAGGGAGGAAGCCAGGCCCTGGGAGGAAGGGCTCAGGCCTCCCTTCTCCCTGCAGGTTTGCAGCCAGCCTCATCTCTGGTGTACTCAGCTACAAGGCCCTGCTGGACAGGTAGGACTGGGAGGGTGGTGCCCTGTTCCAGCACAGTCTGCCTATGCGTCTATCTCCCTTGCAGGGACCTTGTCTTTTTCCAGCTCTGTATTCCCATTCCTGGCTCCTGGCACAGAGCAGATGTCCCTGCCCCAACCCACTCCCCCACCATCAGGATGACCTTTAGCCTGGCTGGCCTGTCTGTTAACTGTTCCTTTTCCTGTGGCAAGCACCATCCTTCCTTGATCTTTTAAAAATGTCTCCTCCCTCCACACATACGTGCACAGGTGGAGTGAATTCACTTGAAGCTGGAGAACACATAGGAAGGCGGGGAAGGAAGAGTTGTTAGAGTAAGGTGATGGGAGTTCTGCTTTGCCACTTGGAGGAATGGTGTCTCCAGCGGGAGACTGTATCCTCAATCCCACCAAGCTCAGTGGACATGAGGCTGTTCTGACAGATGGAGA
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AAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGATGTGCCTATTTGAGGCCAGTTGTTCCCCCATTTAATTCTCTCTGTGTTCCTCTCAGGTAGGAATTGTTATTTATGTCCTATGGATGAGGAGCAGAGGCTTGGAGAGATTCGGAGAGGAAGGACATCCACTGCATCCCCACCCCTGCCCCTAACACCCACATGAAACAAAATTCCCTGCCTGGGTTTTATAAGTAGGAGGGACTTATAAGAAGCTCAGGGCATGAATCATCTTCTGAGGAACCCTCTTTTAGAATTCTAGTCATTAGGGCAGCACTGAATTATGTCTCTCATCCAAAACCATCTTTTATCCTTCCAAATCTCTCCCTAAGAGTGCCCCCTTCAGGTCCAGAGATCAATCAGATTCTGGAGCCCCAGCTGGGAACAATCTCTAAATTAAGAGTCACCAGCAGCCAACAATATCAATAACAGGACTATTTCATCTTAGATCCATCCTTTATGGCTTAAAAGCACTTTCATATCTATTTTCTGTTTGATCCTATGAGAGATAGGGGTTACTACTCCCATTCTACAGAGGAAGAAACTGAGGCACAGAGGGAGGCTGATTTGCCCAAGTTTGCAGAGCTGGTCAGTGGCAGGGTCAGGGTAGAAACCCAGGTCTGTCTGATGCCAATATCACCGTATTTTCCTCTGCACTTTATCCCTTTCTGGGGACAGAGCACAATGAGGTCAGGGACGCCAAACAGGAACTTCCTAAATTCATAATTTTGCTGAGCTGAGCCCTAGAAATGGAGGGGTCCCAGGGTAGAGAACAACACAGGGGCAGAACAATACAGATACTAGGGACCAACTTGGGGACAGGCATGGGGCGCACATACTAGAGGCACAATGCCTATGAACCCTTTCTTCCAGGGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGCCACGTACCTGCAGTGCATGCGACACTTGGTGTCTGAGGAGCAGTTCAGGAAGAGCCAGGCCATTGTGCAGCAGTTTGGGGCCCCTGGTGGCCTCGGCGAGACCCTGCAGCAGAAACTCCTGGAGCGGCAGGAGAAGACAGCCAACTGGGTAAGAGGGGCAGACAAGGAACCCATAGAAGAGGGGCGGGAGGCAGACCTGGAGACAGAGGGATCTCGGTGAGAGGCAGGTAGGGGACAAAGACAGGGCAGAAGGAGAGATGAGGGACAGGGATGGGGGATAGGTGTGGGAACAGGCAGGTGGCATGGATTGGAGGACAGGAAGGGACAAGGATGAGAAACAAACAAGATGAGGAATGGGAAATACGGATAGAGAAAGAGGCGGACAAATCGGGGACAGGAATTGGGACAGATGAGGACAGAGATCGCATTAGGAAAGAAGAGAGGGTGAAAGGCAGGAAGAAGACACCTGTAAGGACAGGCAGAGGACAGCGATGTAGCACCAAGCCACCAGGATGGGGACTGGGACAGAAGAAAGGAGACAGGAGGGCACAAAGGTGAAGGACAGGCCTGGTGGACTGGGAAGCTCCTGGCACATACCTGGGGCTTAGCATATATTTGTGGAATGAATGAATTAATGCTCTGGTGAAGTGTCCCGATTTTCTCTCGGGGCTGTCAGGATGGGACTGTTTGGGGGGATGTGACGGCCTTCCCTGCCCTCCCCGGCAGGTGTCTGAGTACTGGCTGAATGACATGTATCTCAACAACCGCCTGGCCCTGGCTGTCAACTCCAGCCCTGCCGTGATCTTTGCTCGGCAGCACTTCCCTGGCACCGATGACCAGCTGAGGTGAGGCCTTGGTGCTCCTAGCTCATAACCTGGGGACCCACCCAAGGCAGGGGCCCTTACCCCAGTGCCAGCAAAGAAAGGCCAAAGCTGGAGCCTCGGCTGAGCTTCCTGGGGTCAAATGCCCCGAGACAGTGGACGTCCAGGCCATCAGGTGGGGAGCAAGGTTAGGTGTGGCTGCACTCGAGTGACAATCACACAATTAGCCTTAGTCTATATTTATCTTGCAGTGGAATGGACACTCATGGAGGTCATGGGTCCAAATATCCCCACAGCCTCCACCTGGCTGAGGCCCTGGGAGGAGGCGTGTGTCCCTGGACCACGCCAGTACTTGTCCCTGGGAAACACTGCCCCAGGCTGTCTGAGAGGGCCTCTGCTTCCTTCCAGAGCCCCCAGCTCTAAACAGAGGCCCCAGAAGGCTGGAAACAATTCCTCCCTGCCAGCAGCCAGAGCCTGTGCCATCTGCTGTAATTTCAGAGCTCACTGAGCCGTTGGAAGGGCCTCTGGCCGCTAATGACAATGGAGGATGGGTGCAGGGAGAAAGGGTTTCCCTTCTGGAGTCACTCAGAGTCTGGTCTTAAGACCTGAGTGGGGCAAATGGTGGGGACGGTTTAGAGGGAGGGCAGACCAAAGTGGCCCGAGGACAAGAGGCAGGGCCCACCTCTCCTCTGGGCAGGGCTTAGCCATGCTAGGAAGACCTCCCCACCCCACCCTACCAGCTGGCCAGCCTTCCCTCCCACTGTAGCTGGGGTCTCCCCAGGGAAGAAGGAAGGTGTGGACAGATGAATGACTTCTGAAAACAGTTCTCACAATTGCATCTGAGGGGGTATTTTCCTCCTGGTGCAATTAAGCCAGGCCCAGAATCCTGGTATGACAGTTCCCGCTGCTCGTTTCTCCAGTGCCTTTCCCCAAGCACTCGATTTCCTTTTCATTAGTACCGGGGGGTGGGAGGAAAGGGACCAAATTACTGGCTTTTCCCAGGAGAAAATTTTCCACAAGGCCAGGGGTCCTGCCCTGTCCAGACCCAGGGCTGGCTTTTCCAAGGAAGAACTCCACCCTTCACCCTCCACCCCTTCTGGCCTGCTCTGTGGCCTCTCCTAGCTTCCGTCTCCCTCTCTGCTCCCTCTCCTCTTCAAGATGATTCCAGTTTCCTCTCCCTTCCCCAAGAGCTACTCGACCCCCAGTTCTCACCAAAGGACCATTTTGAATCCAAGGCTTGTGGTGGGCTCTCGGCATGGGGCTGGGGGGCAAGAACCACATCTGATTAGTGCAGGAACCACATCTGATTAGTGCACACGGGGGCGGCATACAATGGGCGATCACAGAGTTTGGCAGTGGGGATGAGGGAGGGAGGAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGGGAGGGAGGAAGCCAGGCCCTGGGAGGAAGGGCTCAGGCCTCCCTTCTCCCTGCAGGTTTGCAGCCAGCCTCATCTCTGGTGTACTCAGCTACAAGGCCCTGCTGGACAGGTAGGACTGGGAGGGTGGTGCCCTGTTCCAGCACAGTCTGCCTATGCGTCTATCTCCCTTGCAGGGACCTTGTCTTTTTCCAGCTCTGTATTCCCATTCCTGGCTCCTGGCACAGAGCAGATGTCCCTGCCCCAACCCACTCCCCCACCATCAGGATGACCTTTAGCCTGGCTGGCCTGTCTGTTAACTGTTCCTTTTCCTGTGGCAAGCACCATCCTTCCTTGATCTTTTAAAAATGTCTCCTCCCTCCACACATACGTGCACAGGTGGAGTGAATTCACTTGAAGCTGGAGAACACATAGGAAGGCGGGGAAGGAAGAGTTGTTAGAGTAAGGTGATGGGAGTTCTGCTTTGCCACTTGGAGGAATGGTGTCTCCAGCGGGAGACTGTATCCTCAATCCCACCAAGCTCAGTGGACATGAGGCTGTTCTGACAGATGGAGA
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Task1_train_13888
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A sequence alteration has been identified in CHAT (choline O-acetyltransferase) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Familial infantile myasthenia
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TCCCCTGAGTCCCACACTCGCTCATCCAAGCCTCAGCCATCCCCACCGGGGTGTCTCTCAGTCATTACAAATGAGCCAGGAGAGCTTCGCCTCTCCCTCCCCATTCCCCAACTCCTCCCATACCTTGTCGAGCCATGTCCGTAAGTGCACCAGCACATGCCCTGTTGGTGAGTCTGGGAACCTAGAAGTCACCTGTGCTTGTTCTGCTTTCTCCCTTGCACCTTCATGTAACCCATGGTGCTCAGATGTGGTCATTCTCCCTCCCCACTGTGTCCCCAAGCTCCCTCCTCCTTCCCTGCTGCCCTCACAAGACATCACGTTCCTTCTCTGCCACAACCTCCTTCCTTGTTCTTCCTGTGACACCTTTCAGTCCATTCTCCCCATATAAGCAGGGTCAGTAAAACAACAAAATGGAAACCCAGTCATGCCCCTGCGTGCTAAAGCCTCCCAAGGGCTTTCACTGCACCAAGAATAAGGCGATAGCTCCTCTCCACTGCCACTGGAGCCCCACAGGACCTGGCCTGCCCACCTCTCTGGCCCTGTCTTCACTGGGCCTCAGCCCCACTGGCTTCTCTCTGCCTTTGATCAGTGCTTCTCAAGCTGCCTCTGGGGAAGAACCAATATATTTTCTTTCATTTTGTAAAATTTGTGAAAAACAACAAAAAATTGATTACTAGAAAAACGGTATGAAATATGAGACCAAATGTTTTATTACAGGATTCAACAGACATAAAACTCCCATCACATTGCTACAAACATTTCTGGGTTCAGGCATTACACCAAGTCATGGGTCAGTCACAGCAGTTCAGTGCAATACTCATACTTTGAGTTGCAGTGCTTTGGGACACTTCACCCTTAGGGCTCAGCTCAATCAACCTGCCTCAGTGAGACTGCCCCTGGTCACCACCTCCTGTCCCTGCCAACACTCTGTCTCACTACCTGACAGTCTCCTGTTCACTGGTTTGCTGCTTGTGGTCTACTCCCTACCTACACATCCTAGGACTTACACCCCAGTAGAGCAGGAGCTGCATGTCTTATTTGCTGCCATATCCCCACATCCCAGAATGGTGCCTGGCCTATACGGAGGACGTGCTTCACAAATATTTGTTGGCTGAAAGAGTGGAAGGAAGGAAGGATGGATGGACGGATGGATGGATGGATGGATGGATGGAAAGATGGATGGATGGTGGATAGATGGGTGGATGGTGGATGGATGGGTCGATGGAAGGATGGATGGATGCTTGGTGGATGGATGGGTGGATGCAAGGATAGATGGATGGTGGATAGATGTGTGGATGGTGGATAGATGAGTGGGTGGTGGGTGGAAGGAGGGATGGATGTTTCGTGGTAGAAGTATGGTAGATGTATGGATATATGGATGGATGATGGATAGATGGATGGGTGGATGGATGGAAGAAAGGGAGGGAGAAAGGAAGGATAGGCACAAGGCATGCTGAGACCAGAGGGAAAAAGAACTTCCTGCATTGACCTCAGAAGAGGCTTCTAAAAGAGATGATAAAGGAGTAGGCTCTTGAAGGAGGGGAAGGAGTTTTCTGAATAGAACAGTTGAGTTCTGGGGTTGGGGCAAAGGCACGCCGAGAGAAGATCAGCATAAGCAAAGATGCAGAAGGCTAACTGGCAGGCTTTGCACATGCCGTGCATGAGGCAGAGGTTTGAGAAAACTCTGAGGGTCTCCACGTGTTGTGGAAATGGGGCCTCCACTACTTTAAAAAGTGGAGAATTGAGCTCTGCATCTGCCATGATGATGCAGTTCTGGGTTCTGTGCCCCATTTTGCCTGATCAAGTTACAATAAAACCCATTCTCTGTCTCCCCTCACCACCCACCATCCCCTCGTGGCTGCCTCCCTTCCCACTCCTCTCCTTCAGCCACTCCATTCCCACTGACTGTGCCAAAGGCCAGCTGTCAGGGCAGCCCCTTTGCATGAAGCAATACTATGGGCTCTTCTCCTCCTACCGGCTCCCCGGCCATACCCAGGACACGCTGGTGGCTCAGAACAGCAGCATCATGCCGGAGCCTGAGCACGTCATCGTAGCCTGCTGCAATCAGGTAAGCAACCCCTTGTCTTGGTGAGGGAGGGCACAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGAT
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TCCCCTGAGTCCCACACTCGCTCATCCAAGCCTCAGCCATCCCCACCGGGGTGTCTCTCAGTCATTACAAATGAGCCAGGAGAGCTTCGCCTCTCCCTCCCCATTCCCCAACTCCTCCCATACCTTGTCGAGCCATGTCCGTAAGTGCACCAGCACATGCCCTGTTGGTGAGTCTGGGAACCTAGAAGTCACCTGTGCTTGTTCTGCTTTCTCCCTTGCACCTTCATGTAACCCATGGTGCTCAGATGTGGTCATTCTCCCTCCCCACTGTGTCCCCAAGCTCCCTCCTCCTTCCCTGCTGCCCTCACAAGACATCACGTTCCTTCTCTGCCACAACCTCCTTCCTTGTTCTTCCTGTGACACCTTTCAGTCCATTCTCCCCATATAAGCAGGGTCAGTAAAACAACAAAATGGAAACCCAGTCATGCCCCTGCGTGCTAAAGCCTCCCAAGGGCTTTCACTGCACCAAGAATAAGGCGATAGCTCCTCTCCACTGCCACTGGAGCCCCACAGGACCTGGCCTGCCCACCTCTCTGGCCCTGTCTTCACTGGGCCTCAGCCCCACTGGCTTCTCTCTGCCTTTGATCAGTGCTTCTCAAGCTGCCTCTGGGGAAGAACCAATATATTTTCTTTCATTTTGTAAAATTTGTGAAAAACAACAAAAAATTGATTACTAGAAAAACGGTATGAAATATGAGACCAAATGTTTTATTACAGGATTCAACAGACATAAAACTCCCATCACATTGCTACAAACATTTCTGGGTTCAGGCATTACACCAAGTCATGGGTCAGTCACAGCAGTTCAGTGCAATACTCATACTTTGAGTTGCAGTGCTTTGGGACACTTCACCCTTAGGGCTCAGCTCAATCAACCTGCCTCAGTGAGACTGCCCCTGGTCACCACCTCCTGTCCCTGCCAACACTCTGTCTCACTACCTGACAGTCTCCTGTTCACTGGTTTGCTGCTTGTGGTCTACTCCCTACCTACACATCCTAGGACTTACACCCCAGTAGAGCAGGAGCTGCATGTCTTATTTGCTGCCATATCCCCACATCCCAGAATGGTGCCTGGCCTATACGGAGGACGTGCTTCACAAATATTTGTTGGCTGAAAGAGTGGAAGGAAGGAAGGATGGATGGACGGATGGATGGATGGATGGATGGATGGAAAGATGGATGGATGGTGGATAGATGGGTGGATGGTGGATGGATGGGTCGATGGAAGGATGGATGGATGCTTGGTGGATGGATGGGTGGATGCAAGGATAGATGGATGGTGGATAGATGTGTGGATGGTGGATAGATGAGTGGGTGGTGGGTGGAAGGAGGGATGGATGTTTCGTGGTAGAAGTATGGTAGATGTATGGATATATGGATGGATGATGGATAGATGGATGGGTGGATGGATGGAAGAAAGGGAGGGAGAAAGGAAGGATAGGCACAAGGCATGCTGAGACCAGAGGGAAAAAGAACTTCCTGCATTGACCTCAGAAGAGGCTTCTAAAAGAGATGATAAAGGAGTAGGCTCTTGAAGGAGGGGAAGGAGTTTTCTGAATAGAACAGTTGAGTTCTGGGGTTGGGGCAAAGGCACGCCGAGAGAAGATCAGCATAAGCAAAGATGCAGAAGGCTAACTGGCAGGCTTTGCACATGCCGTGCATGAGGCAGAGGTTTGAGAAAACTCTGAGGGTCTCCACGTGTTGTGGAAATGGGGCCTCCACTACTTTAAAAAGTGGAGAATTGAGCTCTGCATCTGCCATGATGATGCAGTTCTGGGTTCTGTGCCCCATTTTGCCTGATCAAGTTACAATAAAACCCATTCTCTGTCTCCCCTCACCACCCACCATCCCCTCGTGGCTGCCTCCCTTCCCACTCCTCTCCTTCAGCCACTCCATTCCCACTGACTGTGCCAAAGGCCAGCTGTCAGGGCAGCCCCTTTGCATGAAGCAATACTATGGGCTCTTCTCCTCCTACCGGCTCCCCGGCCATACCCAGGACACGCTGGTGGCTCAGAACAGCAGCATCATGCCGGAGCCTGAGCACGTCACCGTAGCCTGCTGCAATCAGGTAAGCAACCCCTTGTCTTGGTGAGGGAGGGCACAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGAT
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Task1_train_13889
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A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Respiratory insufficiency
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13890
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This alteration occurs within gene CHAT (choline O-acetyltransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Aspiration pneumonia
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13891
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The gene CHAT (choline O-acetyltransferase), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Gastroesophageal reflux
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13892
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Chromosome 10 houses a mutation in gene CHAT (choline O-acetyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Decreased activity of the pyruvate dehydrogenase complex
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13893
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A variant found in Chromosome 10 affects CHAT (choline O-acetyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Progressive muscle weakness
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13894
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A variant was discovered in gene CHAT (choline O-acetyltransferase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Progressive ptosis
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13895
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This variant impacts the gene CHAT (choline O-acetyltransferase) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Apnea, central sleep
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13896
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A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; External ophthalmoplegia
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13897
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The gene CHAT (choline O-acetyltransferase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Febrile seizure (within the age range of 3 months to 6 years)
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13898
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Given a variant located on Chromosome 10 and affecting CHAT (choline O-acetyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Pes planus
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Task1_train_13899
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The following genetic variant occurs in CHAT (choline O-acetyltransferase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Lactic acidosis
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGACTGACAAATAGGACCTTTCATGTGTCAGCCTGTGGGCTCAGCACTTAACATGCATTCATCCCACTTAATCCTCACAGTGACCATGCAGAGGGGGCCTTAGGATCTCTGTGTGACAGTTGAGGACATGAGACTCAGACAAGTTAAGTGGTCTGTCCAAGAGTGGGAAGGAATCCTGGGTCTGGCCAGTGCCCTAAGGTCATGCTCTACCCCCTGCAGCTCAGGTCCTCAGACTGGGTTCCACAGAGCCAACAAGGACCCATGGGTCCTGGGGGACAGGCTGAGCATGAGGGCTCCTGACCTCTTCCCTGTGCCCACTGCACTATATATTCCATATATTGAGCTTCACATAAATATTTCCTCTGACAAACAGTTTTGTTTTTGTTTTTGCTTTGCTAAAACCCAAGTTTGGCAACCATCCCAGGGACTCCCCTGGTACTTGCTCTACAATGTGATCCTGGGCTCTCCTCACATTTTTAGTAAGTTGGGAGCTCTGTGGAGCCCTGACATCTGAGGGCAGCTGTGACCTCTGTTCCTAGATTTGAAGGCCATCTAGGAGCTCTCGCAGCCCACCTGACACCTTGGCCATAGACCAAGGACGTTTCCCCATCTTCATTCAAAAGTCAAGCCAAGTATTTCCCAGCTCCCACAGGCCACCGTATCCACCTCTTCCAGACATGCTCTGGGCCCCTGCACAAGACCAGGCCATACAGACACTGCTAGGGGGTTGGAGGGGAAGGGAAAACAAGGTACTCATGTCAATCAGCTGAAAAGTGTATCTTGACCTGGGTCTAGGAATAGACCCTTCACAAAGCCCAAGGCTCTAGCCTTCAAAGCTACAAAATGACAAAACCACAGGGCTGACATACAAAGCACATGTAGGTATACATGTGAAGGTGCACACACATGCACACATGTGTAGGTGCACATGCACGCATGGTGTGTGTTGGTTTTCCATTTTAATCTTCCTCTGCATATGATTGCTGGCTTGCTTTTTTTCCTCCACTCACCAGTGTGTTTAAGGCCCATCACTGTGGCTCTATCTGTTGCTAATTCACTCTTTTCAATGGCTGGGTAGACATGCCCTAGACATATACACCACATTTCACTTAGCCATTCCCCTTCTGGAGAACAGTGAGGCTCTTGCTACCATTTTGCTGTTGCAAACAAGGCCGAGAGGCACATTCCTCGTGTCTTCCGGTACACACGGGTACGTTTCTCTAAGCCTCAGGCTAAAATATGCATTTATAAGTGCAATTGCTTAGTCATAGGTATGCACATTTTTAGTTTTGATAGACACTGCCCTCCAACAGTAGCTGTGCCAATTTATATTCCATTCCCCACAAACATAATGGATTCCGTGAACCATGAAACACATTTTCTTTTGGCTAAGTTTAATGTTGCCTTCTTTGATTGGGGGCAGCGTGGAATCCAGCACAGTCAACAGCCTTGGCTTGGTCCCTAAACTGAGACTAGAACCACCAAACACCTTGGGAACCTTGGGCCTGAGCATCCCTGCCCCAAGCTTACCTGTGAAGGCTGAGTGAAGGCCTGGTGCCACGGGCCACCCAACAAGTGACATGTTTGACCTGTTTACCCCACAGTTCTTTGTCTTGGATGTTGTCATTAATTTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGATGTCTGACGGGAGGAGCGAGTGGGCCGAGGCCAGGACGGTCCTCGTGAAAGGTCAGCCGCAGTGCCCAGCACATCTCCATGCCCATCTCATGCTCGTGCCCATTGGCTTTCCCTCCTCTAGGGTTGGGCCAGGGCCTCATCCCCATCAGCCATAGTGTGGGAGCTCAGGGCCCACAGCATGCCCTGCGGCCAGCCACAGTGCCTTGCCACCGAAGCCACCTTTTGTGCCCTCGTGTTCCATCTGACAGTATCTGGCTTTCTTGGTGGGACTAACTAGTGCTGGAATTGGGGATGTCTGAGAATACTGGGCGGGGCGGGGGAGTTAGCTGGAGGAAGGCTGGCTGCAAGTGAGCAGGTGTGTTTTCCTGGTGGGTGGCGCTCACTGATAGTGGCTGGGGGAGTCGCTGAATGGGGGTGTGGGATGGAGCCTGCCTCTGGGAAAGTGGTTCACCACCTCTTTCACCTGATCTCTCCATCCTGGGACTCTTCATCTTCAAGCTGTCCCTTATCTTGTGGCACTGTTCTGATGAAAGTCTCCAAGCATTCCCATAAGAAAGCCAGGAATATTCTTGAAAATTTTTCATCACCCTTCTGGAAACTACTTTCAAATCCAAAGCTGGTCCTATTCCAGGAGCTGATGGAATGCTCTCCTTCCTTGCCCATGTTAGAGACACTGGATGAGAAGCAAGACTTCTGTGAGTCTTTATTTACCCCTCAGAATTTTACTGGGTCAGGCAATCTATTCAGACTCTCCACATCTGTTACTGAGGGCCCTGGGCTTGGCTCAGGGAGTATGGGAGACAAAGGAGTTGAGGCCTCTACCCAAGAGCAGCCCCATGATGGGAACAGGAAGAGGGGGCATGGGGAGGAGACTCACATCCAGGTGCATGCAGTGCTGACCCACTTCAGACAGGCGTCAAAAACGTGCTCCAGGACTTCAGAGAGGGGACGGAGCCCTTCCGAGTGGGATTGTGAAAGGCTCTGTTAGAAGAGGTGGGAATGGAACAAAGCCCCATGGCATGAGTGAGAAAGGCTGGAGGGAAGGATGGTACCCAGGCAGGCAGACCAACCCTGGGCAAAGCCCGAGGCCCAGCAGGGACACACCCACCTTACCCCCAGGGTGAGGAGGAGAATAGCTGCCCAGCAAAGGTGGCCTGAGCCGGATGTACTGGGCCTATTTTTTCTAACAGCCACTTGCATTTTCTGGTCTCTCTCTAGAAGGGTCTTCCCCCAGATCCAGCTGGCTCCTTGCCGCACGCAGAGCTCAGCCCAGGTGTCCGGCCTCAGGCCTGCCTTGGGCATCCTTCCCGCACACTCTGTCACTGTGGCCCGTTCGCTTACCTTGACTCTGTTGCTCACTCTCTGAGGACAACTTTGCATTTGTTTGATAAATGCTGATTATCTGCCTTTCCCCCCACCTCCTACCCACTGCCTATAAGGTCAGAAGGACAGGGGCCTTGTCTGTTTGGTTTAATTTCTGAGAAACACAGTCTGGGCCCAGTTACATTTATTAAATAAAAGAGTGAAGGGTGATTAAAAATGCCAGGCCCCAGACTTATTCCCCGACTTACCAATTAATTATTCTTTCATCCAATTATTGGGCACCTCCTGAATGCTGTCATAAATAGGGGGCTGCAGGAGCCAAAGAGGGGTGTGAGAGCTGACTGCCCTCCCGGACCTAACCTCGTGCTGGAGAATTAATAACTTAGCATTCCGCAGTGAGTTAATTCCCTCGGGAGACCATGGTGTAATCAAATCCCACTCTTCTCCCCTTCAGGGACAGAGACAGGCATCAAAATAATCGCCTCTGCCTCCAGCATAGTTTCCACTTTATTAGCAGGCCAGGCCCAAGACACGCCCTTCAGGGCTGGCTGGATTGCCCCAAGGTCTGAGCACTTGGGCTGCAGATCAGAATTGATTTGTTAATGGCACTTGATCTGGCTTTCTGAATGGAAGTGCTGTTTCTGAGGGAAATGCGACAGAAAGGAGGGGACACATGCGCCTCCCCTTGGGTAATCCGATTAATCCAGTTAGCGCCAACTGTGTCA
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Subsets and Splits
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