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_24900
|
Here is a genetic alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Osteogenesis imperfecta type I
|
TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
|
TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGTCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
|
Task1_train_24901
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGC
|
TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGATCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGC
|
Task1_train_24902
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGG
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CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACTAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGG
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Task1_train_24903
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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 IIC
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GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCAT
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GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTACAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCAT
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Task1_train_24904
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A change on Chromosome 17 affects gene COL1A1 (collagen type I alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATG
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GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCTAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATG
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Task1_train_24905
|
Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
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GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACAAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
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Task1_train_24906
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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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GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
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GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACTAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
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Task1_train_24907
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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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GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCG
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GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCTAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCG
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Task1_train_24908
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This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Osteogenesis imperfecta type I
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TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTG
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TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGATCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTG
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Task1_train_24909
|
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGG
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TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGACAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGG
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Task1_train_24910
|
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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GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGC
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GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCTAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGC
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Task1_train_24911
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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 III
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GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAG
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GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCATCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAG
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Task1_train_24912
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A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCC
|
TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGATCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCC
|
Task1_train_24913
|
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.
|
Pathogenic; not provided
|
TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCC
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TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACTAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCC
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Task1_train_24914
|
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.
|
Pathogenic; not provided
|
GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGG
|
GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACTAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGG
|
Task1_train_24915
|
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?
|
Pathogenic; not provided
|
GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGG
|
GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACAAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGG
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Task1_train_24916
|
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGC
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GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCTTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGC
|
Task1_train_24917
|
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
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ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCAC
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ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCAAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCAC
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Task1_train_24918
|
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Osteogenesis imperfecta type I
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24919
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A variant was discovered on Chromosome 17, affecting COL1A1 (collagen type I alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24920
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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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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24921
|
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, perinatal lethal
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24922
|
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; Osteogenesis imperfecta type III
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24923
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; COL1A1-related disorder
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
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Task1_train_24924
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This is a variant in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGAT
|
TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACTCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGAT
|
Task1_train_24925
|
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGA
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CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGTCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGA
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Task1_train_24926
|
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; not provided
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AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTC
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AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGTCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTC
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Task1_train_24927
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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 type I
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TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGG
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TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCAGCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGG
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Task1_train_24928
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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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CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
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CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCTGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
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Task1_train_24929
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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 III
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CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
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CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCTGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
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Task1_train_24930
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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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GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCG
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GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACTGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCG
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Task1_train_24931
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A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCA
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ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCTAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCA
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Task1_train_24932
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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; Osteogenesis imperfecta type I
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAACTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24933
|
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?
|
Pathogenic; Osteogenesis imperfecta
|
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAACTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24934
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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?
|
Pathogenic; Osteogenesis imperfecta type I
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24935
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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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24936
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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; Infantile cortical hyperostosis
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24937
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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; Osteoporosis
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24938
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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 with normal sclerae, dominant form
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24939
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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; Ehlers-Danlos syndrome, arthrochalasia type
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24940
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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, perinatal lethal
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24941
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This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Osteogenesis imperfecta type III
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24942
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The following genetic variant occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Osteogenesis imperfecta type I
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
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Task1_train_24943
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Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; COL1A1-related disorder
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ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCAC
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ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACTTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCAC
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Task1_train_24944
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The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCA
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GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCAGCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCA
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Task1_train_24945
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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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CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCAC
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CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACAAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCAC
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Task1_train_24946
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This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGC
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TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCTCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGC
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Task1_train_24947
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This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24948
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A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24949
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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, perinatal lethal
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24950
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A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Osteogenesis imperfecta type III
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24951
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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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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24952
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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; Infantile cortical hyperostosis
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24953
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Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Postmenopausal osteoporosis
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24954
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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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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
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Task1_train_24955
|
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; not provided
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CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAA
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CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCAACCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAA
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Task1_train_24956
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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; not provided
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GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAA
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GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCTGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAA
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Task1_train_24957
|
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGG
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CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACAAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGG
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Task1_train_24958
|
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Osteogenesis imperfecta type I
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CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCC
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CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCTAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCC
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Task1_train_24959
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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, perinatal lethal
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GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTAT
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GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCAAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTAT
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Task1_train_24960
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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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TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGG
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TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTGCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGG
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Task1_train_24961
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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; not provided
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TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGG
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TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCTAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGG
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Task1_train_24962
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Chromosome 17 houses a mutation in gene COL1A1 (collagen type I alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGC
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ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCAACCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGC
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Task1_train_24963
|
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; not provided
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TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAG
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TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACAAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAG
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Task1_train_24964
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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; See cases
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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Task1_train_24965
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Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Osteogenesis imperfecta type III
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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Task1_train_24966
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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 type I
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
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Task1_train_24967
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Osteogenesis imperfecta type I
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GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
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GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACGCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
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Task1_train_24968
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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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GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
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GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACTCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
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Task1_train_24969
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A mutation on Chromosome 17 affecting COL1A1 (collagen type I alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Osteogenesis imperfecta type I
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GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
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GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGGCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
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Task1_train_24970
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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, perinatal lethal
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GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
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GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGTCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
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Task1_train_24971
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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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GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGG
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GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTGCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGG
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Task1_train_24972
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Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), 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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GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGC
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GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCTGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGC
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Task1_train_24973
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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 III
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AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
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AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACTAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
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Task1_train_24974
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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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AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
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AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACTAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
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Task1_train_24975
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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 with normal sclerae, dominant form
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ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
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ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCTGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
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Task1_train_24976
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A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Osteogenesis imperfecta type I
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ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
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ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCTGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
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Task1_train_24977
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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, perinatal lethal
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGACAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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Task1_train_24978
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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 type I
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGGCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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Task1_train_24979
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This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; COL1A1-related disorder
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGGCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
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Task1_train_24980
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This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA
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TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCTGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA
|
Task1_train_24981
|
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; not provided
|
CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGG
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CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCAACACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGG
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Task1_train_24982
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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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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24983
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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, perinatal lethal
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24984
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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 III
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24985
|
This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24986
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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; Postmenopausal osteoporosis
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24987
|
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; Infantile cortical hyperostosis
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24988
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24989
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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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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
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Task1_train_24990
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Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGG
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CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACTAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGG
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Task1_train_24991
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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; not provided
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CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGC
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CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCAAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGC
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Task1_train_24992
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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 with normal sclerae, dominant form
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24993
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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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24994
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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; Osteogenesis imperfecta, perinatal lethal
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24995
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Osteogenesis imperfecta type III
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24996
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Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Infantile cortical hyperostosis
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24997
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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; Ehlers-Danlos syndrome, arthrochalasia type
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24998
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Osteogenesis imperfecta type I
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Task1_train_24999
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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; Osteoporosis
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
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Subsets and Splits
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