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_25100
|
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
Task1_train_25101
|
The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Infantile cortical hyperostosis
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
Task1_train_25102
|
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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Task1_train_25103
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A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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Task1_train_25104
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Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Osteogenesis imperfecta type I
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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Task1_train_25105
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This gene mutation involves COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
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Task1_train_25106
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A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Osteogenesis imperfecta type I
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TCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGAT
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TCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACTCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGAT
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Task1_train_25107
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Consider this mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Infantile cortical hyperostosis
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25108
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Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25109
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This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25110
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This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Postmenopausal osteoporosis
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25111
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Gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Osteogenesis imperfecta type I
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25112
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This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25113
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This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Osteogenesis imperfecta type III
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25114
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Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; COL1A1-related disorder
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25115
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Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25116
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25117
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The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Osteogenesis imperfecta
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCTGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATA
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Task1_train_25118
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Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Osteogenesis imperfecta type I
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GGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGG
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GGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCATCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGG
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Task1_train_25119
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A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Osteogenesis imperfecta type I
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GGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGG
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GGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACGATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGG
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Task1_train_25120
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This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Osteogenesis imperfecta type I
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ACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGA
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ACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACGTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGA
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Task1_train_25121
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A mutation found in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Osteogenesis imperfecta type I
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AGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTG
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AGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCTACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTG
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Task1_train_25122
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A variant found in Chromosome 17 affects COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Osteogenesis imperfecta type I
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TGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAA
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TGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCTATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAA
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Task1_train_25123
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A variant affecting Chromosome 17, within the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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GTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAG
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GTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCATCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAG
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Task1_train_25124
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A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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CAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGA
|
CAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCGAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGA
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Task1_train_25125
|
A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Osteogenesis imperfecta type I
|
TCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAG
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TCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACTCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAG
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Task1_train_25126
|
A genomic change on Chromosome 17 affects COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Osteogenesis imperfecta type I
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GGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAA
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GGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGAGCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAA
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Task1_train_25127
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A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Osteogenesis imperfecta type I
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ACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATC
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ACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACTAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATC
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Task1_train_25128
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This alteration occurs within gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGT
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GAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCATCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGT
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Task1_train_25129
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Given this variant in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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AAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTC
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AAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACAATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTC
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Task1_train_25130
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This is a variant in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Infantile cortical hyperostosis
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACAACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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Task1_train_25131
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Given a variant located on Chromosome 17 and affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACAACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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Task1_train_25132
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A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Osteogenesis imperfecta type I
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACTACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACA
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Task1_train_25133
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A variant on Chromosome 17 in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Osteogenesis imperfecta type I
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TCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACT
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TCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAATCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACT
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Task1_train_25134
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The variant affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Osteogenesis imperfecta type I
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TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAA
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TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCGCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAA
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Task1_train_25135
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The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Osteogenesis imperfecta type I
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TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAA
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TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCTCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAA
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Task1_train_25136
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This genomic variant is located on Chromosome 17, within the COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Osteogenesis imperfecta type I
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TGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATG
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TGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTTCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATG
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Task1_train_25137
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Here is a variant affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Osteogenesis imperfecta
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GGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGT
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GGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCTAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGT
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Task1_train_25138
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Here is a variant affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Osteogenesis imperfecta type I
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CTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACT
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CTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGACAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACT
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Task1_train_25139
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Assess the clinical impact of this variant on gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCGGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25140
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The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; COL1A1-related disorder
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25141
|
This alteration in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Osteogenesis imperfecta
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25142
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The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Osteogenesis imperfecta type I
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25143
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Located on Chromosome 17, this mutation impacts COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Osteoporosis
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25144
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Consider this mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25145
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Here is a mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Osteogenesis imperfecta type III
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25146
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A variant has been detected on Chromosome 17 in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Osteogenesis imperfecta type I
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25147
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This mutation is located in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25148
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This variant lies on Chromosome 17 and affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Infantile cortical hyperostosis
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25149
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This variant affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25150
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A variant was discovered in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25151
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A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCTGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTA
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Task1_train_25152
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This variant affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Osteogenesis imperfecta type III
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CAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAG
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CAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATTCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAG
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Task1_train_25153
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A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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CTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTA
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CTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCATCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTA
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Task1_train_25154
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Given this variant in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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TGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAG
|
TGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACACTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAG
|
Task1_train_25155
|
Consider this mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
TGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGG
|
TGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCTCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGG
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Task1_train_25156
|
This alteration occurs within gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Osteogenesis imperfecta type I
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TCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGG
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TCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCAACAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGG
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Task1_train_25157
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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CCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCC
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CCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGAGCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCC
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Task1_train_25158
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A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Osteogenesis imperfecta type I
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CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCG
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CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACATGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCG
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Task1_train_25159
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The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Osteogenesis imperfecta type I
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CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCG
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CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACTTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCG
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Task1_train_25160
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A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Osteogenesis imperfecta type I
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CTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTC
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CTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACATCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTC
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Task1_train_25161
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Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Osteogenesis imperfecta type I
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ATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTC
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ATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGAACCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTC
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Task1_train_25162
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The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Osteogenesis imperfecta type I
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TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCG
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TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACACATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCG
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Task1_train_25163
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Given this variant in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCG
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TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACGCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCG
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Task1_train_25164
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Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Osteogenesis imperfecta type I
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GTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCA
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GTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCTAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCA
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Task1_train_25165
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This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Osteogenesis imperfecta type I
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TCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCC
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TCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGTCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCC
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Task1_train_25166
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Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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AGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACA
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AGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGAACTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACA
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Task1_train_25167
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Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Osteogenesis imperfecta type I
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GCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACAC
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GCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACTTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACAC
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Task1_train_25168
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This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTT
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GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGACTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTT
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Task1_train_25169
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Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Osteogenesis imperfecta type I
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GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTT
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GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGACTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTT
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Task1_train_25170
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An alteration has been detected in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Osteogenesis imperfecta type I
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AGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCC
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AGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGAGCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCC
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Task1_train_25171
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A mutation in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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GGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCC
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GGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACACTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCC
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Task1_train_25172
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This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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ACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAG
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ACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCATCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAG
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Task1_train_25173
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This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Osteogenesis imperfecta
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CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGC
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CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACGAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGC
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Task1_train_25174
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A mutation in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Osteogenesis imperfecta type I
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CCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGC
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CCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGTCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGC
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Task1_train_25175
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This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Osteogenesis imperfecta type I
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CCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCG
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CCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCTAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCG
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Task1_train_25176
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This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Osteogenesis imperfecta type I
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TAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACC
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TAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACCCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACC
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Task1_train_25177
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A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Osteogenesis imperfecta type I
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AGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCA
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AGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCGGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCA
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Task1_train_25178
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This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Osteogenesis imperfecta type I
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TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGC
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TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAAAATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGC
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Task1_train_25179
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A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Osteogenesis imperfecta type I
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TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGC
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TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAATATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGC
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Task1_train_25180
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A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Osteogenesis imperfecta type I
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GGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCT
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GGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACGTGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCT
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Task1_train_25181
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Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Osteogenesis imperfecta type I
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACAAGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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Task1_train_25182
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A genetic alteration is present in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Osteogenesis imperfecta type I
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACACGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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Task1_train_25183
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A mutation found in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Osteogenesis imperfecta type I
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACAGGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCACATCTCCCCTCTTCGCAGCTCTGCCTCCCCAGCCCCCCAGCCCAGCCTGGGCCAGAGGTGCTGTGGTAGGGGTGCAGCTGGGTCCTCAGAATGGCGTGGGCTAACCAGTGGGTAGGGGTGCCCCTCTGCTCTCTTCCTGGGACCTCCAATCTAGAAGAAGTGGAACTGGGGAACTGGGGAGCTGGGTGGGGAGACTTCCAAAGGTGGAAGGGTTGGGGGTGTTGGGGAGGGGGTCCTCCTGGCTGTGCCCCAGTCACCCTCTGATATCCTGGCAAGAGCTAAGGGAGGGGCATAAAGAGGCATGCTGAGGACCTCTCCAAAACAGAGGAAGCTGGGAATTAAAAAGATGTGCCTGTTTGGGGGTGTCTTCTGGTGTGGCTAGGGGATGGAGCTTAGGAATATTTGGGGAACAATTTACAGATTCCTTTCTAGACATTAAGAATCAGATATCTGAGGGAGGGGTGCAGGCAAGGGAGTTTTAATTTTGAGGATGTCAATTCTTCTGCTGTGCTCCAGAACAGAATCAAATGCCTTCCTCCAAACCCTAGGCATGATTGAGAGATGGAGTGGGGAGGCTGAGGTGCAGGGTGAGAAACATGACTAGGTGGCCTCTGCAGAAGAAAGCTTTGGTGGTTGGGTGATGGAGCAGCCAAGGTAGGGGTGGGGGATTCTAGGGACACAGAGGTGGGGATTGGGGCTTGCAATCCCCTAAAAATTCATCCCCCAAACTCTTCCACCCCAGAGTTGGGAAGTATTTTTAGTGGGAGGCCTGTGATCATTGGTGACTTAGAGAAGAGTTTTGTTTGCCATGGCTGTGGCCAGGGGCTGCTTAGAGACCCTCCTTCCCAGCACAGTCAAACCAGAGAGAACCTGGGTGGAGGGAGGGCACTTAGCTAAAGGGGTGTCTTTCTGGGAGCTGCATAAAGCCCCTTCTCCAGTTGTACCTGGACTCAGTGTTGGGGATGTATGGGATATTTTGGGTGTCTGGGTGAAACTTTCCTTTGGGGGTGTGGGATGGGCTGCAGAGGATGATTGACTTTGTTTTAGGGGCTACTTCCCACTGCCTCATCTCTTTCTTGAAAATCCCGGTCATTGCTCTATGCCTTAGGAACCAGAGAGAATCATCTGTACACTCTGAAAGGGTCTGGGGACCCGAAGGACAGCAGGCTATATCTAAGGAAGATGGCTCTAGAACTCCACGTCCTTTCTTCCTCCATGTCCCATTCCCCCAACAAGGCTCTGCCTCAACCCCAATCTACCTCGTCCTGAGAAACTCTGTAGGGCTGAGAGAAGGCCTGGGGGTCTCCTTGCAGTGCCCTGTTCATTTCTCTCCCTCCTGTGCAGCTCCCCACCCCGGGTGCTCCAGAGCTGCAAACGTGGAAGCGGGGAGTCCCGCCTCCCCCAAACCATCCAAGATTCCATTGCCTCCCCCCGCCCCTCTCCACGCCCTCCCCCAGCTGGTTTTGTGCAACGAAGGCAAAGGGGAAAAAAAAGGAACAGAAGGGGAGGGAGCCACGTCGGCTGGCCGGCTGGCCGTGGGCAGCCAGGATGAGCGGTGCGGGTGGGGCAGCAGAGGGAGACTGCAGGGGCTATAATTAAAGGGAAAATATAGAGTTTCCAGAGAGGCAGGGCTGGAGACAGCAATGGAGGGATGGACCTTCATCAATTATCCCGACCATGTGGCAGCAACTTGTGGCCCAGGGTCTGCCCCCGCCTAGTGCCAGCGACTGCAGGGCAGGACTAGGGGGCTG
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Task1_train_25184
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A genetic alteration is present in XYLT2 (xylosyltransferase 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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GAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTGGTGAGGGACAGGGGTGCTCCAGCCCTTCCCAGGCGGGGGCAGGGGGGTGGCATGGCCCGGATCCTCACCCCTATCTCTCTGAGGAAGAAAGAGCCAAGGGGATCCTACCTCCCTGCCTAAGTCTTCATCCAGTGTACTTACTAAGTGGCAGAGGCAGAGTGGGGACCCACGAGCATGGAGCTCCAAGTCTAGGTTTCTTCGGAAGGCAGGCAGCTCCCTCTTCCCATCTCACCCCCACCCTGTGACCTAGGGTGGGCCTCGCCAACGCCTGTCCTCTGCTCTCAGGGAAGATGAGCCCCGGCATCCAGTGGGATGAGAGCCAAGCCCAGCAGCCCATGGATGGCCCCCCGGTGCGAATCGCCTACATGCTGGTGGTTCACGGCCGCGCCATCCGCCAGCTGAAGCGTCTCCTCAAGGCCGTTTATCACGAGCAGCACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGCAAGTCTCCAGACCCACCTTCTTCGCCCGGAAGTTCGAGTCGACTGTGAACCAGGAGGTGCTGGAAATCCTGGACTTCCACCTGTATGGCAGCTACCCCCCCGGCACGCCAGCCCTCAAGGCCTACTGGGAGAACACCTACGACGCGGCTGATGGCCCCAGTGGGCTCAGTGATGTCATGCTCACTGCTTACACAGCCTTCGCCCGCCTCAGCCTGCACCATGCCGCCACTGCTGCACCCCCAATGGGCACCCCACTCTGCAGGTGAGACCCCCTTCTGACATACAGCAGGCCCTTGGGGTGTGGTGCCCTAGGGGGAGGCCAACCAGAGAGTGACGTCCCCTGCCCACAACAAGGCCCCAGTCTGAAGCAGGGAAAAATGCAAATACCGAAAAGACGGCTAGAGCCAGGCATGCAGGTGCTGTGGGGGTGAGATCTGGGGAAAGGAAGTGCCTGGGGATGGGACTCCCCAGAGCCCCCTCCCTGGGACTCCAGGCCAAGTCAGGTGTGCTGATGGCATCTCCCTTTCTCCCTGCTGGCACCTTAGGTTTGAGCCCAGGGGCTTGCCGTCCAGCGTGCACCTGTATTTCTATGACGACCATTTCCAGGGCTACCTGGTGACGCAGGCGGTGCAGCCCTCAGCCCAGGGGCCGGCAGAGACGCTTGAGATGTGGCTGATGCCCCAAGGGTCGCTGAAGCTGTTGGGGCGCAGTGACCAGGCCAGCCGGCTCCAGAGTCTGGAGGTGGGACAGGTCCCCCACTTGCTTTCTCCCAACCCCCACCCAGACTTGGGGTAGTGGGAAGAGAGGGACAGACACCAAGGGAGGGGTAAGGTTATTTTTCCCAGTCATGGCAGCCATGGTGATGCCCCCATGCAGACATCCTGTGTCACCCCCCAGCCTGTGCACACTGAGGAGCACCTCCTGGTTGGGGTATGCAGAGGACATGCAGGGAGCAGGGAGGGAATTATCAGTTCCACTACAACACAAGCCCAATCTTCCAGACTACAGAGATTTCGCCTAGAGGGGCAGGGACATTCGAGTTGGGCCATGAAACTACACTTCTGAGTGGCTCCTCATAGTCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCCGCGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGACCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGAATACAAGCGCAAGCCACCGCGCCTGGCCCCTCCTCATAGTCTCTTTC
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GAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTGGTGAGGGACAGGGGTGCTCCAGCCCTTCCCAGGCGGGGGCAGGGGGGTGGCATGGCCCGGATCCTCACCCCTATCTCTCTGAGGAAGAAAGAGCCAAGGGGATCCTACCTCCCTGCCTAAGTCTTCATCCAGTGTACTTACTAAGTGGCAGAGGCAGAGTGGGGACCCACGAGCATGGAGCTCCAAGTCTAGGTTTCTTCGGAAGGCAGGCAGCTCCCTCTTCCCATCTCACCCCCACCCTGTGACCTAGGGTGGGCCTCGCCAACGCCTGTCCTCTGCTCTCAGGGAAGATGAGCCCCGGCATCCAGTGGGATGAGAGCCAAGCCCAGCAGCCCATGGATGGCCCCCCGGTGCGAATCGCCTACATGCTGGTGGTTCACGGCCGCGCCATCCGCCAGCTGAAGCGTCTCCTCAAGGCCGTTTATCACGAGCAGCACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGTGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGCAAGTCTCCAGACCCACCTTCTTCGCCCGGAAGTTCGAGTCGACTGTGAACCAGGAGGTGCTGGAAATCCTGGACTTCCACCTGTATGGCAGCTACCCCCCCGGCACGCCAGCCCTCAAGGCCTACTGGGAGAACACCTACGACGCGGCTGATGGCCCCAGTGGGCTCAGTGATGTCATGCTCACTGCTTACACAGCCTTCGCCCGCCTCAGCCTGCACCATGCCGCCACTGCTGCACCCCCAATGGGCACCCCACTCTGCAGGTGAGACCCCCTTCTGACATACAGCAGGCCCTTGGGGTGTGGTGCCCTAGGGGGAGGCCAACCAGAGAGTGACGTCCCCTGCCCACAACAAGGCCCCAGTCTGAAGCAGGGAAAAATGCAAATACCGAAAAGACGGCTAGAGCCAGGCATGCAGGTGCTGTGGGGGTGAGATCTGGGGAAAGGAAGTGCCTGGGGATGGGACTCCCCAGAGCCCCCTCCCTGGGACTCCAGGCCAAGTCAGGTGTGCTGATGGCATCTCCCTTTCTCCCTGCTGGCACCTTAGGTTTGAGCCCAGGGGCTTGCCGTCCAGCGTGCACCTGTATTTCTATGACGACCATTTCCAGGGCTACCTGGTGACGCAGGCGGTGCAGCCCTCAGCCCAGGGGCCGGCAGAGACGCTTGAGATGTGGCTGATGCCCCAAGGGTCGCTGAAGCTGTTGGGGCGCAGTGACCAGGCCAGCCGGCTCCAGAGTCTGGAGGTGGGACAGGTCCCCCACTTGCTTTCTCCCAACCCCCACCCAGACTTGGGGTAGTGGGAAGAGAGGGACAGACACCAAGGGAGGGGTAAGGTTATTTTTCCCAGTCATGGCAGCCATGGTGATGCCCCCATGCAGACATCCTGTGTCACCCCCCAGCCTGTGCACACTGAGGAGCACCTCCTGGTTGGGGTATGCAGAGGACATGCAGGGAGCAGGGAGGGAATTATCAGTTCCACTACAACACAAGCCCAATCTTCCAGACTACAGAGATTTCGCCTAGAGGGGCAGGGACATTCGAGTTGGGCCATGAAACTACACTTCTGAGTGGCTCCTCATAGTCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCCGCGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGACCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGAATACAAGCGCAAGCCACCGCGCCTGGCCCCTCCTCATAGTCTCTTTC
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Task1_train_25185
|
The gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
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TCACAGCTCACTTTTCTCTGTCTCTGGGAATGTGTGTCCAGCTCTTCAAAGGGAAGTTTTTCGTGTGCCAGGGCGAGGATACCAGGAACATCACCAATAAATCGGACTGTGCCGAGGCCAGTTACCGGTGGGTCCGGCACAAGTACAACTTTGACAACCTTGGCCAGGTGAGCCCCAGGCTCAGAGGTGGGGCTGTGGTGAAGGAGGCTGGAGGGGGCACAGGGCCATGCTTAGTGATACCTGCTGACTCCGGTGGAGGTGGGCTCCACGAAGAGATCAGCCCTTCACACCCTCTGCTGTCTAACCACCAGCATGTCGCAAAGCCCAGTCCATCCCACAGTGCCCCAAAAAGTGGGCCCATGGGGTCTCTAGCCGTCCTTAAAGATGAAGAAACAGAGGCTCAGAGAGGGTAAGGGGCTTGCCCAGGGCCACAGAGCTACATGGTGGAGCAGGAAGCACACGTGGCAGTGGGGGCAGGCAGCCCTGGATGTGAATCCTGTGCAAATCCTGACCCCACCATTGTCAGCTCAATGACCTGGAGCAGCTGACTTACCAGGGCCTCAGTTTCATTAACTGGTGAATGGAGTCATAATAGAATCTCCTCGGAGGTCACAATAAGGATGCAATGAGATGATGTGTATATTTCTTTAACATGGTGGAAGGGACGGATATATTGTCAAGATAATTCCTTTCCTCACTCCATATTTGCAGAAACAGAAATGCAGAAAATGAAATTGCTCGCTCAGTTTTGATTCCCAGACCCACTCTGGTTTTGGTTTCTGGATTTCCAGGGTTTTTGTGTCCCTTCTCCTACCTGGCGGAGGGCAGAGGGTGTGACCATCTCTCAGGGCCCCTCCAGCTGCAGCTCAGTTATGGAACCCTGAGAGGGAGGGCTCTCCTGGAGCCTGGAGTGTGACTCCAGCTTGACCCCTCAAGGGCTGGGGTACTTGGAGCTGATGCAGGAGGCACTTTGGGGGCAGGTGATAGGTGATTCAGCCACACATCCTAGACTTCAAATGTCTCCTTCTCCTCCTCCCCATCAGGCCCTGATGTCCCTGTTCGTTTTGGCCTCCAAGGATGGTTGGGTGGACATCATGTACGATGGGCTGGATGCTGTGGGCGTGGACCAGCAGGTAGGGCTGAGGTGGGCAGGATCCATCTGTGGGCTCAGGTCACTCAGCATGGGCTGATTCCAGGACAGAAAGAGCAAGGCAGGGTGGCAAAATGCCATGAAAGAAGCATCATATTTTACAGCAGAGGCTGTTGCTGGTAGCCTGTGGGCCAAATCTGGGCATGTTTTATTGGTCTACAACATGTTTAACATGTTTTGAATTAGTGATGAATATTTTTAAACTGGTGAATTTGGGCTGTGTGCAGTGGCTCACACCTGTAATGCCAGTGCATTGGGAGGCCTAGGCAAGAGGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGGCATCATAGCAAGACCCCCAGCTCTACAAAAAATAAAAACAATTAGCCGGGTGTGGTGGTATCATCTGGAGTCCCAGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAATAAGCTGTGATCGCACCACTGCACTCCAGCCTAAGCAATAGAACAAGACCCTGTCTCTAAAAAAAGAAAAAATAATGGTGAGTTTTACACAGAAATTCAGATTTGTGTCTACTCAGGAAAAGTCTGAAGATCTGGGAAGACTGGGCTTGCATTCCCTCAAGGCAGGAGTCAGCCAGAACAAAGAGGCAGTTTTGGATGGAGAATCTACTCTCCCCTTTACCACAGTCCCCGCCCCTCCCTACTGCTTCACATCAAACCCACACCATTCATTTCCATCGCCTGTCAGGCGGCTGTAGCTATTTGGGTTCGCAGGAACCCAGGCTGTGGGCAGCTCCTAAGACAGCTTGCCCTCGGGCTGATGCCTCCGCCTGTCCTTCCTGCTCCCCGCCAGCCCATCATGAACCACAACCCCTGGATGCTGCTGTACTTCATCTCGTTCCTGCTCATTGTGGCCTTCTTTGTCCTGAACATGTTTGTGGGTGTGGTGGTGGAGAACTTCCACAAGTGTCGGCAGCACCAGGAGGAAGAGGAGGCCCGGCGGCGGGAGGAGAAGCGCCTACGAAGACTGGAGAAAAAGAGAAGGAGTAAGGAGAAGCAGATGGCTGGTCGGTAGTCTTTCCACCTCTCTCTGGGTCGTGCTTGACCTTGGCCTTGCGACTGCAGGGGGCTGGGCGCTGGGGCCGGGGGCAGGGAGAAGAGGCTCCCACCCCCCTCCTCACCTCCTTCTCCCCAAGAGCATGTCTGCCTTTAGAGCGAGCATGAAGCAGACCACTTCAGCCCCATGGGTAGGGGGAGCTGTCCCCACCCTGGGGCCTCCCAGGACCTCAGCATCATCCTCCCCAGATGATGCCAAATGGAGGTTGACACCCAGCCTCCCCGAGCTTGACTCTCAGAGGAGCCTCACTGGCTGCTCCACTGCCCCATGCCAGCATCCAGAGGCCCAGGGTGGGCAGCAAGCATCTCAACCCTGCACCCACCTAGTGTCTGCAGCTGCCGAGCAAAGCCTCAGCAGATCTCAGTAATGGACAACAGCGTAAAAGAGAACCCAGACACCCCTCCCTCCCTATCTCTAACAAAACTTTCTACCATGATATATATATATATATATATATATTTCTGCTAAACTTAAAAAAAGAAAAAGCAAAAACAAAAACAAAAAAAGAAAACTCCCCTTGGCTTGGGGAAGTTCTGGAATAACCTGGGGCCCTGGAGCCCCTCACCTCCTCACCTGTGCTCCCCAGCATCTCTTGGCATTGGGTGGGTGAAGCCCCCATCCGTCCGTCCTCATGCCCTTATGCCATGGGTGGGCCGAGACTAAGTGAGAAGACAGAGGCCAGGAAGGATGTGAGAGACACAGCAGGCGCCCAGGCCCCTTTGTTTCTGGGGCATCCCCAGATGCGTCTGCACCTGTCTCCCTCTCTCCCGGGCTCCAGGGCTCCCATCTGCCTGGTACAGCGTAATCTCCGCGCCTCTCTCTCTCTCTCAGTCACGGCCCACGTCTCTCTAAGTGTCTTTGTGTGTGGGTTTATCTAAGCCTTTGTGTGTCTGTCTGTGTGTCTCTCTCTGTTTGGGGTGAGGGTTTCCCATGCTCTCTTCACCTTTTCACAAATCGTCTTCCTTCCGCCGATAAGATGGGTGCGGTGGCCTGAGTTTTCCTTTGGTGTGTTCACATGTGAGTACCACCAAATGAGTGAGGGGTTGCCGTGCCCCTGCCTCCCCTCTGCCCTCAGCTCTATCTCCCTCGGCCTGGGAGTGGCACTCTGAGGCGGGGGGAGAGTGTGGGAGTTGCAGACGAGGGTGGAGGTGGGAGGGGGCCTGTGTTCCCTGTGAAGAGCGGGAGCTGCTCCAGGATGTGGGGGAGACACTGGCCTCTGGGCAGCAATGGGAGGTGCCGTTCTCCACGTCCCCAACCCTCACTATCAGCACCCCCAAGGCCTTCTGCTCGGCTCAGGGTAGGGGTCCGGGTTCGGCTTCCCTGTGGATATCTGCAGCTGAGCAGGTGCAGTGTCCCCTGTGGCCACCGTCCCACTCCTGCTCCATCCTCCCCACCCCCACCTCACAGTCAGGCAGATGGAATTCTTTTGGCAGGCGGCACTTGTGGCCCCTGCCTGCCCAGCTGGCTCCCCTTCTGGGGTCTGTAGCTGTCTCAGGTGCAGCTGAGGCCACAACGCAGGAGAAGCGGACATCTGTTCTGATGACCGGCTGCCTGCCCCTCCCGGTGCCTCCCTGCCCCGTGACCCTGACCAGCTAGCCACATTGCTTGTCTTCCTCAAGTGCCCTGTGCCCCCAGCTTCGGGCTGGACATTCAGAGCCAGCCACCCAATGGGCTCAGCGCACCCCACCCATAGGCAGAGTGAGGTGGGAGCTGAGGGGAAGCCGCCCCTGAGGGGCCCTGCCCAGCGCACCTGGTCCGGCCAGTGACCAATGTCGTGTTTCGTTCTTTTAGATCTAATGCTGGACGATGTAATTGCTTCCGGCAGCTCAGCCAGCGCTGCGTCAGGTACTGCGTCTGGGGTG
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TCACAGCTCACTTTTCTCTGTCTCTGGGAATGTGTGTCCAGCTCTTCAAAGGGAAGTTTTTCGTGTGCCAGGGCGAGGATACCAGGAACATCACCAATAAATCGGACTGTGCCGAGGCCAGTTACCGGTGGGTCCGGCACAAGTACAACTTTGACAACCTTGGCCAGGTGAGCCCCAGGCTCAGAGGTGGGGCTGTGGTGAAGGAGGCTGGAGGGGGCACAGGGCCATGCTTAGTGATACCTGCTGACTCCGGTGGAGGTGGGCTCCACGAAGAGATCAGCCCTTCACACCCTCTGCTGTCTAACCACCAGCATGTCGCAAAGCCCAGTCCATCCCACAGTGCCCCAAAAAGTGGGCCCATGGGGTCTCTAGCCGTCCTTAAAGATGAAGAAACAGAGGCTCAGAGAGGGTAAGGGGCTTGCCCAGGGCCACAGAGCTACATGGTGGAGCAGGAAGCACACGTGGCAGTGGGGGCAGGCAGCCCTGGATGTGAATCCTGTGCAAATCCTGACCCCACCATTGTCAGCTCAATGACCTGGAGCAGCTGACTTACCAGGGCCTCAGTTTCATTAACTGGTGAATGGAGTCATAATAGAATCTCCTCGGAGGTCACAATAAGGATGCAATGAGATGATGTGTATATTTCTTTAACATGGTGGAAGGGACGGATATATTGTCAAGATAATTCCTTTCCTCACTCCATATTTGCAGAAACAGAAATGCAGAAAATGAAATTGCTCGCTCAGTTTTGATTCCCAGACCCACTCTGGTTTTGGTTTCTGGATTTCCAGGGTTTTTGTGTCCCTTCTCCTACCTGGCGGAGGGCAGAGGGTGTGACCATCTCTCAGGGCCCCTCCAGCTGCAGCTCAGTTATGGAACCCTGAGAGGGAGGGCTCTCCTGGAGCCTGGAGTGTGACTCCAGCTTGACCCCTCAAGGGCTGGGGTACTTGGAGCTGATGCAGGAGGCACTTTGGGGGCAGGTGATAGGTGATTCAGCCACACATCCTAGACTTCAAATGTCTCCTTCTCCTCCTCCCCATCAGGCCCTGATGTCCCTGTTCGTTTTGGCCTCCAAGGATGGTTGGGTGGACATCATGTACGATGGGCTGGATGCTGTGGGCGTGGACCAGCAGGTAGGGCTGAGGTGGGCAGGATCCATCTGTGGGCTCAGGTCACTCAGCATGGGCTGATTCCAGGACAGAAAGAGCAAGGCAGGGTGGCAAAATGCCATGAAAGAAGCATCATATTTTACAGCAGAGGCTGTTGCTGGTAGCCTGTGGGCCAAATCTGGGCATGTTTTATTGGTCTACAACATGTTTAACATGTTTTGAATTAGTGATGAATATTTTTAAACTGGTGAATTTGGGCTGTGTGCAGTGGCTCACACCTGTAATGCCAGTGCATTGGGAGGCCTAGGCAAGAGGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGGCATCATAGCAAGACCCCCAGCTCTACAAAAAATAAAAACAATTAGCCGGGTGTGGTGGTATCATCTGGAGTCCCAGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAATAAGCTGTGATCGCACCACTGCACTCCAGCCTAAGCAATAGAACAAGACCCTGTCTCTAAAAAAAGAAAAAATAATGGTGAGTTTTACACAGAAATTCAGATTTGTGTCTACTCAGGAAAAGTCTGAAGATCTGGGAAGACTGGGCTTGCATTCCCTCAAGGCAGGAGTCAGCCAGAACAAAGAGGCAGTTTTGGATGGAGAATCTACTCTCCCCTTTACCACAGTCCCCGCCCCTCCCTACTGCTTCACATCAAACCCACACCATTCATTTCCATCGCCTGTCAGGCGGCTGTAGCTATTTGGGTTCGCAGGAACCCAGGCTGTGGGCAGCTCCTAAGACAGCTTGCCCTCGGGCTGATGCCTCCGCCTGTCCTTCCTGCTCCCCGCCAGCCCATCATGAACCACAACCCCTGGATGCTGCTGTACTTCATCTCGTTCCTGCTCATTGTGGCCTTCTTTGTCCTGAACGTGTTTGTGGGTGTGGTGGTGGAGAACTTCCACAAGTGTCGGCAGCACCAGGAGGAAGAGGAGGCCCGGCGGCGGGAGGAGAAGCGCCTACGAAGACTGGAGAAAAAGAGAAGGAGTAAGGAGAAGCAGATGGCTGGTCGGTAGTCTTTCCACCTCTCTCTGGGTCGTGCTTGACCTTGGCCTTGCGACTGCAGGGGGCTGGGCGCTGGGGCCGGGGGCAGGGAGAAGAGGCTCCCACCCCCCTCCTCACCTCCTTCTCCCCAAGAGCATGTCTGCCTTTAGAGCGAGCATGAAGCAGACCACTTCAGCCCCATGGGTAGGGGGAGCTGTCCCCACCCTGGGGCCTCCCAGGACCTCAGCATCATCCTCCCCAGATGATGCCAAATGGAGGTTGACACCCAGCCTCCCCGAGCTTGACTCTCAGAGGAGCCTCACTGGCTGCTCCACTGCCCCATGCCAGCATCCAGAGGCCCAGGGTGGGCAGCAAGCATCTCAACCCTGCACCCACCTAGTGTCTGCAGCTGCCGAGCAAAGCCTCAGCAGATCTCAGTAATGGACAACAGCGTAAAAGAGAACCCAGACACCCCTCCCTCCCTATCTCTAACAAAACTTTCTACCATGATATATATATATATATATATATATTTCTGCTAAACTTAAAAAAAGAAAAAGCAAAAACAAAAACAAAAAAAGAAAACTCCCCTTGGCTTGGGGAAGTTCTGGAATAACCTGGGGCCCTGGAGCCCCTCACCTCCTCACCTGTGCTCCCCAGCATCTCTTGGCATTGGGTGGGTGAAGCCCCCATCCGTCCGTCCTCATGCCCTTATGCCATGGGTGGGCCGAGACTAAGTGAGAAGACAGAGGCCAGGAAGGATGTGAGAGACACAGCAGGCGCCCAGGCCCCTTTGTTTCTGGGGCATCCCCAGATGCGTCTGCACCTGTCTCCCTCTCTCCCGGGCTCCAGGGCTCCCATCTGCCTGGTACAGCGTAATCTCCGCGCCTCTCTCTCTCTCTCAGTCACGGCCCACGTCTCTCTAAGTGTCTTTGTGTGTGGGTTTATCTAAGCCTTTGTGTGTCTGTCTGTGTGTCTCTCTCTGTTTGGGGTGAGGGTTTCCCATGCTCTCTTCACCTTTTCACAAATCGTCTTCCTTCCGCCGATAAGATGGGTGCGGTGGCCTGAGTTTTCCTTTGGTGTGTTCACATGTGAGTACCACCAAATGAGTGAGGGGTTGCCGTGCCCCTGCCTCCCCTCTGCCCTCAGCTCTATCTCCCTCGGCCTGGGAGTGGCACTCTGAGGCGGGGGGAGAGTGTGGGAGTTGCAGACGAGGGTGGAGGTGGGAGGGGGCCTGTGTTCCCTGTGAAGAGCGGGAGCTGCTCCAGGATGTGGGGGAGACACTGGCCTCTGGGCAGCAATGGGAGGTGCCGTTCTCCACGTCCCCAACCCTCACTATCAGCACCCCCAAGGCCTTCTGCTCGGCTCAGGGTAGGGGTCCGGGTTCGGCTTCCCTGTGGATATCTGCAGCTGAGCAGGTGCAGTGTCCCCTGTGGCCACCGTCCCACTCCTGCTCCATCCTCCCCACCCCCACCTCACAGTCAGGCAGATGGAATTCTTTTGGCAGGCGGCACTTGTGGCCCCTGCCTGCCCAGCTGGCTCCCCTTCTGGGGTCTGTAGCTGTCTCAGGTGCAGCTGAGGCCACAACGCAGGAGAAGCGGACATCTGTTCTGATGACCGGCTGCCTGCCCCTCCCGGTGCCTCCCTGCCCCGTGACCCTGACCAGCTAGCCACATTGCTTGTCTTCCTCAAGTGCCCTGTGCCCCCAGCTTCGGGCTGGACATTCAGAGCCAGCCACCCAATGGGCTCAGCGCACCCCACCCATAGGCAGAGTGAGGTGGGAGCTGAGGGGAAGCCGCCCCTGAGGGGCCCTGCCCAGCGCACCTGGTCCGGCCAGTGACCAATGTCGTGTTTCGTTCTTTTAGATCTAATGCTGGACGATGTAATTGCTTCCGGCAGCTCAGCCAGCGCTGCGTCAGGTACTGCGTCTGGGGTG
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Task1_train_25186
|
Given this context: Chromosome 17, gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Spinocerebellar ataxia type 42
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCGCATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCACATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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Task1_train_25187
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Here is a variant affecting CACNA1G (calcium voltage-gated channel subunit alpha1 G) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCGCATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCACATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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Task1_train_25188
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The gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Spinocerebellar ataxia type 42
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCGCATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCCTGCCCTTCTGGAGTTGAGATTCTAGCGAACGTCCAGCTCCAGAGCTCACCTGTGACCTTGCCACTTCTCCAGTCAGCCTCCCTTGGCTGCCTTCCAGCCGTCGGTTTCCCTGTCCATCCAATGAGGGGGTTGAATTTGTAATGCACAAGGCCCCTTCCAGTCCTGGCATGCCGTGTCATCTAGTACATTCTCATGTGATCTCCTCACCATCTCCCAAGGAGAAAGATCCTTTAGCATAAGGTTGATTCATTCATGTGAATAAGTGCCCTACTCCCTTCTGGGGTTTGGTGGCTAATGGCCAGCCATCATGATGGGAACAGAGAAGACAGGGCTCCTTGGAGTTCCCCTGCCTCTCAGACCTGGGCGGTATGATGGAGGGGCGGGGGGACAAGCCCCAGCCCTGGGCCTTAAGGGACCCTGCATCTTGCCCCCATCCCTGCCAGATTCTGGATGAGGCTCTGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAGGTAACGGAGAAAAGGGGGGTCTTGGGGACTTGCGTAGAGATAGAAAGGAATGAGTCTCTTGGGGAAATACCCAGGAAGACCTAGTGTCTAAGACTTTTCTTAATTCCTGAGGTTCAGCCCCCACCCTGTGGCTGACGTAGGGGACTAGGGGATGGGAAGGCATGGTCTCCAGGACCAGGAGATGGGAAGGCATGGAGAGAATTTGACAAGACAGGGCCTGGGGGATGCTGGCAGCTAGAAATCAGTGTGACCTAGCCTGGGGCTTAAGAGCACAGAGCCTGGAGCCAGACTGCCTGAACTGGATTTGAATCCTGGTCTCACCACTTAGTAGCTGGTGGCCTTGGGTAAGTTACTTAACCTCTCTGTGCCTCAGTTTCCTCATTTGTAAAATGAGAGAAAATAATAGTATCCACATCACAGAGTTGTGAGATTATGAATTCCTATTTGGTTTTGAGGGTGTTTTTCGTTTTGTTTTGTTTTGTTTTGTTTTCTGATGCCCAGGCTGGAGTGCAGCAGCTCAGTCATGGCTCACAGCAGCCTTGACCTCCTGAGTTCAAGCTGTCCTTTCACCTCAGTCTCCCAGGTAGCTGGGACTACGGGCACCCACTGCCACACGCAGCTAATTATTTTTTATTTTTATTTTTAGTAGATACAGGGTCTCACTATGTTGCCCAGGCTGTTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGACTCCCAAAGTGTTGGGACTGCAGGTGTGAGTTCCTATTTGTAAAGCTCTTAAAAGTGCCTGGTGCATAGTGAACACCATATAAGTGCTAAATTAAAAATAAAAGCAAATGAATACAAATGAAAAGCAGAGGCTTTTGAGCTAAAGTCCTAGTCCTACTCGTGCCACCAGTTGGCTGTGTGGCCTTAGATAAGCCACGCCTCTTCTCTGTGGGATGGGAGGCTGGACCCGCTGATGTCTGCCCTCCTTTCAAGCCCTGTCTTTCTGTGCCACGACTGCCCCCTCCTTCAGGAACCCCCTCCCCCAACTCAGGGAGCTGTATTCTGGGCTTTCCAGGTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCACATTGCCCGAGGTTGGTGCCCAGCCCACGCACCTGCCCTCCTAGGGTGACCAGCCCAGGGAGAGAGAGCAAGGGTCGGCTTTGTGGCTGGTCAAGGCCTGGGCGGCTGTGGGTTCCCATGGGTCTTTCTCCCAGCTTCTGCCAAGGGAGGCTGGAGACAGGGCTGAGGATGGGGATGCAACCTGGCTGGCCCGGAGATGGCCATCCCAGCAGCCCCAGCCCAGCCCTGGTCCTGACTCTGCCAGCTGTCTGGCCGGGGACCCAAAGAGGCCAGCTCATGACGTTGTCCTGTTCTGCAGTGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAGGTAGCCGGGAGGTGGGGGGCCTCTGGGGAGGGGGAGGTGCTTTCCAGAGGGAAGGGGCTCAGAGAAGCTGACTGGGAGACCCAGCGGCATCGTTTCTATTTCTTCTCCTTTTTTCCAGGTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGGGTGAGTTGGGGTAGGGGAGGGTGGAGGAGCCAGGGCTGGAGACCAGGGGGCTCCTGGACTAACATGGGCCTCTCCCCCTTTCCCTCCTCCCCCAGAGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAGGTAAGGGCCCAGGGTTGGCCTAGGCTCCAGGGAGGCAGCCCCACTTCCTGAGCTAGGATTCCTTGGGAAGATGAATTGGCCACAAATAAAAGCATGTGACCTTCTCTCCCCCGTGCTAGAACACTCTGGAACTCCCTCTCCCAGGAACATGCTCTGACTCACACTTGTAGTGCTCCTCTGCCCCCAAACACTCCCTCCTCCTCCCCTTCCTTCCCATCCTCCAATGCTCTGTGACACCAGTGACCTGATTTTCCACAACAGCTCCAACAACTGTCCTCCCCAGCCTCACCCCTCTATTCCACCCTCCCCAGGACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACGGTGAGCAGACACCCACCCCAGCCGTGAGAGGAGCTGGGGCAGGAGAAGGGTGTGGAGGGTGGTGGGCGGGAGCCAAGCGGGCAGCACACAAACCCTAGGCTCCTCCTGGAGGCTCCCGCCCTCCGTCCTGGATGCTGAGCGAGCAGTCACTGCCCCTCCCCAGGGATGGCTGCCCACACTCACCCCACAGGGCCACCCCAGCAGACGGGCCAGCTTAGCCATGCCCTGCTCCTCCAGCCTGGTCTGGCCTCCCCTTCCTGACTCATAGGTTCAAGGCTAAGTTTTCTGTTTCCTTCCTGTTTCTTTCTTACCCTTGCCCAACTGCCAAATCTCTTTCCTACCCACCCTTTAACCTGCCTGATTCTCTTCCATCTCTCCATCCTTTTATCTTCTCTTTACCGCTCTCTCTCTCTCCCCCCGCCGTGGGCTCTGCTCATTTTCCATCTCCCATCTCTCCTTCCTCCTTCGCCTTCCCTCTTCCCCACCCCCTCCTCTTTTTCTCTTTGTTGCTGTGTGTGTTTTTGTGTGTGTGCACATGTGCATGTGTGTTGTCTGGGTGTCACCTCTTTCTCCTCTGTTTCTCTTGTCAATCCCCTTCC
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Task1_train_25189
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Assess the clinical impact of this variant on gene COX11 (cytochrome c oxidase copper chaperone COX11), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mitochondrial complex IV deficiency, nuclear type 23
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GTTCACTAATGAGAGTCATTCTTTGTGATTTTCTCATCTGTAAATAGTAAGGCTTGGGAATACAGTAGTTTATGGTATAGAAATATTAATGCTAACAAAATAGATGAGCAATAGGAGTAGCACTGAAATCAGGCATTTGTTTTTCATATGCAGTTAATACTTGTTAACCGGTACCAGTAGACCCATTTACCGTTAGTCCTCCAAATAGGTCTGAATTTTTCCTATTTTCAGCACTACTAATCCCATGTATTTACTATTTAATGGTCACCAATGAACTATCAAAACTTATTTATTCCCCTTATACCCTCCCCTATGGAAGAAGCACATTCTTACCTTTCTTCTACTAGACTGTGACTCTCCAGCTTCCCAGTAAAGACAAGAGAGTTATCAAGGAATGGGGAAAGAGAAGGACAGGATGAATACTGGCCATTTTCTTCTCTTTATTTTAGAAGAAAGTGGATGATCAGCTCACTACCACATCAAAGGTGCCAACTCTCTAAAACGTAGACTCTGTGCAGCTTTGAAGCCTGGAAGACAATACCTACCAACATGTCAAAGCCATGGTGGCACATTTCTGCTATAATGAAGATTAAATAGAATAACAGTTCCAGGATAACACTGATTCCTGACAACAGCGTGAGATTTCAACAGAACTTGTTTGGAACAAATACTCACTTAAAACTTCAGCAGAAGAAAAATTACTTAGTCCTTAGGCCAACCAATTTAACTGCAGTGTCATGTTTCACAGGCCTTCCTACATTTAGAAATCGTCACACAGCTGTGATAAGAGTAGATTATTTTACTATGAAATAATTCTGAATAGATGAAAGCATAAAATGTGAGAAACTGAATGTATTATTCAGGAAGAATACTGAGTGCCTTCATTTAACTAAAGTTGAATGTAAAAGTCAATTTGCACTTCTTTATAATCCTCTGGTTTAGAATTATAAATTGTTAAAACCTTGATAATTGTCATTTAATTATATTTCAGGTGTCCTGAACAGGTCACTAGACTCTACATTGGGCAGCCTTTAAATATGATTCTTTGTAATGCTAAATAGCCTTTTTTTCTCTTTTTACTGCAACTTAATATTTCTATTTAGAACACAGAAAATGAAAATATTTAGAATAAGTTGTACATTTGATGACAAATAAATCACTATTAAAACAATTTAATACTTTTTTTTTTTAACAAAGGTTTGTTTCCAGAAGAACTTTTGATGTCAGTAAATCTTCACAATCCCACCTGTACATTTTAACATTCATGGACTTGTAATGGTGATGCTTTGGCTAACAGCCTAGTAGATGTATTTTATTTCAATTTTATGATACTACAGTTTCAAAGTAATTATTCAGAACTCTGAATATAAAATAGCCCTAAACCTTAAAGGACAAATCAAATTTGAAATAAGAATTTAAATCTTTGGACAAGCTGTTAGGGCTTAGTGACTCCTCTTCTACTTTGAGCTTTTAAAATACTGACTATTCATAATGAAGGAAAATAGCAACCAACTCTTTTAGACACAATAAACATGGTTAGAAGTTCTGGCCTATGACTTGAAACAAATAACCCTGAGCATACATTTTTGAAAAACATTGTCAGATTCATTGCTGTAAGTATGAAGAGTTAATAATCTGGAAGGGAATTATGGAATTAAGCTGAACCCATGCCTGCATATTTAAAAAACAAAGCGGCTTATTTTAATAGTATCAAACTCTTCAGTATGGTATTGAATAGTCAGTCATATATTCTAGCTAGGCATATGAGTTTCTTATGATAAAAGCTGAACTTGTTCTCTCAAGTTTAAGTGAAAAAAATTAGTTGAGAAAAAATAATTATTTAAAATATAAGCCTTCATATTATTGTACAATATTTCTCCTTTGAGAAGATAGGATATATGATTTTCCCAAAAATCACAACTTTGAAGGAAGACTTAGTTGCTGACTTCAATTATATCCTGGAACTGGCAACTTGTGCCCTTCCTTTGCTTCAAAAAAAGTGTAAGAAAGAGTGATAAGATCAACTTTAATCATTCTTGGATCTTCAGCAAATTCAGGATCAATGTAGAAAAACACTGGCATATCTACTTCCTCTTGGGGATTAAGCCTTTGTTCTTCAAAACAGAAGCACTGGAAATTATAGAAAGATTTTAATAACATTTCTATTCTCGTATTACATAACAGAAACTATACAGTTCTTTTATCTTAGCATTCCAGTACACTTCGTGATTTTAATAAGCATACTATTAAATACACAGTTCTGTGATAAATTAAGAGCATCTTTTCATCTCAATGAGTTCTGCTTTAAGGATGAAGAACAAATTCTAATCTTAAAAGCAGATATCCATTTGGTTTGGTTCTCAATCTCTGCATAGCAGGTATAGATAGTGAAGAAAAATAGCTTGATGTTTAGAAGAAATTCGTTTTCAGAAATCACAAGATCTACTAAAACACTAAGTTTCATACTAAACCGTTTCATGTATCTTTATCATATTCTGTAAAGTTTACACTTTGATGTACCTGTATTTTATTGAAATACTGTCCAGCTTCAAATGGAACAATATTGTATGTAGAAATTCCAATTACTGGTTTGTCAGTAGGATTCTTAGCTCTGTAAAACGCCAGTGCAGTCTCTCCTGGCACCACCTGTTTTAAAGAATATATATATTATCAATACTTTGAATCTCACAAAGTTCCTCTTTTCCCTGCTAAATTAGTCTCATTATTTTGCCTATTCATCAGACCATAATACCTAATCTAATGTAGGGTTCAGCAAAATAAATTGTGAATATTACCCATAAACATATCTGAGTTTAAAAACTTACTTGCATATGTCAATGAAGAACCAATGTTCTAATATCCATAATTAGTTATGAACTGTCCTCTTGTATATTTGAGGTCTTCAAGGAATAATCGGCAAATTACATTATTTAAAATGTGTCCAAGCCAATCATATCACAGCCCTAGCCCAACTTTTCTGTAACACTTATACCTGAATGTCATGATTGACTATTTTTTTTAAAAAGATACCAACATTAAACTTACCTTAAAATCAGAATAAAACTGACTGACTAGAACCTTTATTATGCCACAAAGTGTTAATACTTTGGAGAAAATAAGGGAATAGCGAGGCTTAAAAAAATTTTCCAAAGGATATTCTGTCACTTGTACCAATTCAGCCACTAATACCTTTGTATACTACCACGTAATTGGAGAAGATTCATAATCATAACCTATAAAATCTTTATTAAGAGATTCAGTCATGTTTACTAAACTGGGCAAGCACTAATATTTATAAGGCTTTTCCAATATGGGTTGAAATTAACTCACTCTGGCTAATCCTCAATTAATGAGATTTCAGTTAAAATCTTTCTTACAGTTGGTTAAAATTTTAGGAAAGCGTTTAGGTATAGTCTCAGTCTCACTGGAGTATAACATAACTATTTACTACTTATTGATTATTTCAAAGGCCCTCAATTTGTTTTCTTTTAGAAGGACAGGGATACTTTTGATATAAACCAGTAAACTACTCATTGTAACCAATGCTTTTCCACATTTTTCCCATGTCTTCTATGCCTGAGGAAAAGTCAGGAAGCTATATAGCCTGACGGTTACTGCTACTCCCAACTGTTTCACTCATCTAAACTTAATTTCAAAATACTGACGGGTTCCATTACTATAAATTTTTTTATTCCCATAGACTACTTTTTAATAGTGCTTTACACCTAATGTAACAGAATTTATACTTTAACTTTTAAGTTACATGATAGTAAAAGTCAATTTGGAACAATGGAAAATGCCATGTTTTATTAGAATCATAGTGTTAAAATTAGTCCTCTGACAGTTTAAGTGATGAAAGAAAGGAATTTACATTAATAAAGTAATCTTTTAATGACTGGTTAGTCACTTACATATATTTCTGTTTGCTGAGGTCTAAAGTTCCACTGGAGACTTGCATGCACATCTGCATTAAAGCTAATTTTAATGATTCGATCTTTAACAGGCACCATGTTTTCAATCTTGTCTGAGGCATGACCTGCAACTGCTGATCCTCCAAGTCCAGTAGTCTAGAAAAAGATACCAAATATGTTAAACA
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GTTCACTAATGAGAGTCATTCTTTGTGATTTTCTCATCTGTAAATAGTAAGGCTTGGGAATACAGTAGTTTATGGTATAGAAATATTAATGCTAACAAAATAGATGAGCAATAGGAGTAGCACTGAAATCAGGCATTTGTTTTTCATATGCAGTTAATACTTGTTAACCGGTACCAGTAGACCCATTTACCGTTAGTCCTCCAAATAGGTCTGAATTTTTCCTATTTTCAGCACTACTAATCCCATGTATTTACTATTTAATGGTCACCAATGAACTATCAAAACTTATTTATTCCCCTTATACCCTCCCCTATGGAAGAAGCACATTCTTACCTTTCTTCTACTAGACTGTGACTCTCCAGCTTCCCAGTAAAGACAAGAGAGTTATCAAGGAATGGGGAAAGAGAAGGACAGGATGAATACTGGCCATTTTCTTCTCTTTATTTTAGAAGAAAGTGGATGATCAGCTCACTACCACATCAAAGGTGCCAACTCTCTAAAACGTAGACTCTGTGCAGCTTTGAAGCCTGGAAGACAATACCTACCAACATGTCAAAGCCATGGTGGCACATTTCTGCTATAATGAAGATTAAATAGAATAACAGTTCCAGGATAACACTGATTCCTGACAACAGCGTGAGATTTCAACAGAACTTGTTTGGAACAAATACTCACTTAAAACTTCAGCAGAAGAAAAATTACTTAGTCCTTAGGCCAACCAATTTAACTGCAGTGTCATGTTTCACAGGCCTTCCTACATTTAGAAATCGTCACACAGCTGTGATAAGAGTAGATTATTTTACTATGAAATAATTCTGAATAGATGAAAGCATAAAATGTGAGAAACTGAATGTATTATTCAGGAAGAATACTGAGTGCCTTCATTTAACTAAAGTTGAATGTAAAAGTCAATTTGCACTTCTTTATAATCCTCTGGTTTAGAATTATAAATTGTTAAAACCTTGATAATTGTCATTTAATTATATTTCAGGTGTCCTGAACAGGTCACTAGACTCTACATTGGGCAGCCTTTAAATATGATTCTTTGTAATGCTAAATAGCCTTTTTTTCTCTTTTTACTGCAACTTAATATTTCTATTTAGAACACAGAAAATGAAAATATTTAGAATAAGTTGTACATTTGATGACAAATAAATCACTATTAAAACAATTTAATACTTTTTTTTTTTAACAAAGGTTTGTTTCCAGAAGAACTTTTGATGTCAGTAAATCTTCACAATCCCACCTGTACATTTTAACATTCATGGACTTGTAATGGTGATGCTTTGGCTAACAGCCTAGTAGATGTATTTTATTTCAATTTTATGATACTACAGTTTCAAAGTAATTATTCAGAACTCTGAATATAAAATAGCCCTAAACCTTAAAGGACAAATCAAATTTGAAATAAGAATTTAAATCTTTGGACAAGCTGTTAGGGCTTAGTGACTCCTCTTCTACTTTGAGCTTTTAAAATACTGACTATTCATAATGAAGGAAAATAGCAACCAACTCTTTTAGACACAATAAACATGGTTAGAAGTTCTGGCCTATGACTTGAAACAAATAACCCTGAGCATACATTTTTGAAAAACATTGTCAGATTCATTGCTGTAAGTATGAAGAGTTAATAATCTGGAAGGGAATTATGGAATTAAGCTGAACCCATGCCTGCATATTTAAAAAACAAAGCGGCTTATTTTAATAGTATCAAACTCTTCAGTATGGTATTGAATAGTCAGTCATATATTCTAGCTAGGCATATGAGTTTCTTATGATAAAAGCTGAACTTGTTCTCTCAAGTTTAAGTGAAAAAAATTAGTTGAGAAAAAATAATTATTTAAAATATAAGCCTTCATATTATTGTACAATATTTCTCCTTTGAGAAGATAGGATATATGATTTTCCCAAAAATCACAACTTTGAAGGAAGACTTAGTTGCTGACTTCAATTATATCCTGGAACTGGCAACTTGTGCCCTTCCTTTGCTTCAAAAAAAGTGTAAGAAAGAGTGATAAGATCAACTTTAATCATTCTTGGATCTTCAGGAAATTCAGGATCAATGTAGAAAAACACTGGCATATCTACTTCCTCTTGGGGATTAAGCCTTTGTTCTTCAAAACAGAAGCACTGGAAATTATAGAAAGATTTTAATAACATTTCTATTCTCGTATTACATAACAGAAACTATACAGTTCTTTTATCTTAGCATTCCAGTACACTTCGTGATTTTAATAAGCATACTATTAAATACACAGTTCTGTGATAAATTAAGAGCATCTTTTCATCTCAATGAGTTCTGCTTTAAGGATGAAGAACAAATTCTAATCTTAAAAGCAGATATCCATTTGGTTTGGTTCTCAATCTCTGCATAGCAGGTATAGATAGTGAAGAAAAATAGCTTGATGTTTAGAAGAAATTCGTTTTCAGAAATCACAAGATCTACTAAAACACTAAGTTTCATACTAAACCGTTTCATGTATCTTTATCATATTCTGTAAAGTTTACACTTTGATGTACCTGTATTTTATTGAAATACTGTCCAGCTTCAAATGGAACAATATTGTATGTAGAAATTCCAATTACTGGTTTGTCAGTAGGATTCTTAGCTCTGTAAAACGCCAGTGCAGTCTCTCCTGGCACCACCTGTTTTAAAGAATATATATATTATCAATACTTTGAATCTCACAAAGTTCCTCTTTTCCCTGCTAAATTAGTCTCATTATTTTGCCTATTCATCAGACCATAATACCTAATCTAATGTAGGGTTCAGCAAAATAAATTGTGAATATTACCCATAAACATATCTGAGTTTAAAAACTTACTTGCATATGTCAATGAAGAACCAATGTTCTAATATCCATAATTAGTTATGAACTGTCCTCTTGTATATTTGAGGTCTTCAAGGAATAATCGGCAAATTACATTATTTAAAATGTGTCCAAGCCAATCATATCACAGCCCTAGCCCAACTTTTCTGTAACACTTATACCTGAATGTCATGATTGACTATTTTTTTTAAAAAGATACCAACATTAAACTTACCTTAAAATCAGAATAAAACTGACTGACTAGAACCTTTATTATGCCACAAAGTGTTAATACTTTGGAGAAAATAAGGGAATAGCGAGGCTTAAAAAAATTTTCCAAAGGATATTCTGTCACTTGTACCAATTCAGCCACTAATACCTTTGTATACTACCACGTAATTGGAGAAGATTCATAATCATAACCTATAAAATCTTTATTAAGAGATTCAGTCATGTTTACTAAACTGGGCAAGCACTAATATTTATAAGGCTTTTCCAATATGGGTTGAAATTAACTCACTCTGGCTAATCCTCAATTAATGAGATTTCAGTTAAAATCTTTCTTACAGTTGGTTAAAATTTTAGGAAAGCGTTTAGGTATAGTCTCAGTCTCACTGGAGTATAACATAACTATTTACTACTTATTGATTATTTCAAAGGCCCTCAATTTGTTTTCTTTTAGAAGGACAGGGATACTTTTGATATAAACCAGTAAACTACTCATTGTAACCAATGCTTTTCCACATTTTTCCCATGTCTTCTATGCCTGAGGAAAAGTCAGGAAGCTATATAGCCTGACGGTTACTGCTACTCCCAACTGTTTCACTCATCTAAACTTAATTTCAAAATACTGACGGGTTCCATTACTATAAATTTTTTTATTCCCATAGACTACTTTTTAATAGTGCTTTACACCTAATGTAACAGAATTTATACTTTAACTTTTAAGTTACATGATAGTAAAAGTCAATTTGGAACAATGGAAAATGCCATGTTTTATTAGAATCATAGTGTTAAAATTAGTCCTCTGACAGTTTAAGTGATGAAAGAAAGGAATTTACATTAATAAAGTAATCTTTTAATGACTGGTTAGTCACTTACATATATTTCTGTTTGCTGAGGTCTAAAGTTCCACTGGAGACTTGCATGCACATCTGCATTAAAGCTAATTTTAATGATTCGATCTTTAACAGGCACCATGTTTTCAATCTTGTCTGAGGCATGACCTGCAACTGCTGATCCTCCAAGTCCAGTAGTCTAGAAAAAGATACCAAATATGTTAAACA
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Task1_train_25190
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This alteration occurs within gene NOG (noggin) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; NOG-related-symphlangism spectrum disorder
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CAGAAAGGTAGGGCTGGAAGAGAAATCTATTAATAGTTACGTCACTAATGCGAAAAGTGAGAAAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGG
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CAGAAAGGTAGGGCTGGAAGAGAAATCTATTAATAGTTACGTCACTAATGCGAAAAGTGAGAAAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCCGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGG
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Task1_train_25191
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This is a variant in NOG (noggin), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Brachydactyly type B2
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AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCA
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AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCGCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCA
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Task1_train_25192
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Given a variant located on Chromosome 17 and affecting NOG (noggin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCA
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AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCTCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCA
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Task1_train_25193
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Consider a variant on Chromosome 17 in gene NOG (noggin). Determine its clinical classification and disease relevance.
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Pathogenic; Proximal symphalangism 1A
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AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCAC
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AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCGGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCAC
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Task1_train_25194
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This variant affects the gene NOG (noggin) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Tarsal-carpal coalition syndrome
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AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCAC
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AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCGGCCGACCCACCTCGCACGGCCGCCCCCGCCAGCGCCAGGTGCAGGGCTCATAGCGGGCCAGCAGAGGGCGCGCCGCCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCGGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCAC
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Task1_train_25195
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A mutation in NOG (noggin), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Brachydactyly type B2
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CCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCA
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CCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCGGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCA
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Task1_train_25196
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A sequence alteration has been identified in NOG (noggin) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; not provided
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GCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCC
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GCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCTGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCC
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Task1_train_25197
|
The gene NOG (noggin) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Proximal symphalangism 1A
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GCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTA
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GCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTACTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTA
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Task1_train_25198
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Assess the clinical impact of this variant on gene NOG (noggin), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Proximal symphalangism 1A
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CGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCT
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CGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGTGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCT
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Task1_train_25199
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Consider this mutation in NOG (noggin) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Tarsal-carpal coalition syndrome
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AGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCC
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AGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCTGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCC
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Subsets and Splits
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