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_25000
|
A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Osteogenesis imperfecta type I
|
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
|
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
|
Task1_train_25001
|
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Osteogenesis imperfecta
|
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
|
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
|
Task1_train_25002
|
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.
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTC
|
AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGAACACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTC
|
Task1_train_25003
|
This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Osteogenesis imperfecta type I
|
CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGG
|
CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACTAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGG
|
Task1_train_25004
|
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.
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGG
|
CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCAACCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGG
|
Task1_train_25005
|
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.
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAG
|
TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGATCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAG
|
Task1_train_25006
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTT
|
CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACTACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTT
|
Task1_train_25007
|
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
|
TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGA
|
TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCTCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGA
|
Task1_train_25008
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAAT
|
GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTATCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAAT
|
Task1_train_25009
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACAGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25010
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25011
|
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; Osteoporosis
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25012
|
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?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25013
|
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.
|
Pathogenic; Osteogenesis imperfecta type III
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25014
|
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Osteogenesis imperfecta type I
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25015
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25016
|
This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Infantile cortical hyperostosis
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25017
|
This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25018
|
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.
|
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
|
Task1_train_25019
|
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.
|
Pathogenic; not provided
|
GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGG
|
GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCATCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGG
|
Task1_train_25020
|
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.
|
Pathogenic; not provided
|
CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCAC
|
CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCATCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCAC
|
Task1_train_25021
|
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; not provided
|
ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACA
|
ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACTATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACA
|
Task1_train_25022
|
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.
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCAGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
Task1_train_25023
|
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?
|
Pathogenic; Osteogenesis imperfecta type III
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCAGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
Task1_train_25024
|
This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
Task1_train_25025
|
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
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
Task1_train_25026
|
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?
|
Pathogenic; not specified
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
|
Task1_train_25027
|
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 III
|
TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTT
|
TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGAGCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTT
|
Task1_train_25028
|
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
|
Pathogenic; not provided
|
GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTT
|
GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACTCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTT
|
Task1_train_25029
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
|
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATACGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
|
Task1_train_25030
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
|
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATGCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
|
Task1_train_25031
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCG
|
AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCTGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCG
|
Task1_train_25032
|
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.
|
Pathogenic; not provided
|
CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTT
|
CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCTGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTT
|
Task1_train_25033
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAG
|
TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGGCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAG
|
Task1_train_25034
|
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?
|
Pathogenic; Osteoporosis
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25035
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25036
|
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.
|
Pathogenic; Infantile cortical hyperostosis
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25037
|
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25038
|
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.
|
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25039
|
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.
|
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25040
|
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.
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25041
|
A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Osteogenesis imperfecta type III
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
|
Task1_train_25042
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCC
|
TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCGTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCC
|
Task1_train_25043
|
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?
|
Pathogenic; not provided
|
AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCA
|
AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCTGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCA
|
Task1_train_25044
|
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Ehlers-Danlos syndrome
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
Task1_train_25045
|
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Osteogenesis imperfecta
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
Task1_train_25046
|
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
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
|
Task1_train_25047
|
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.
|
Pathogenic; not provided
|
GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTC
|
GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGATCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTC
|
Task1_train_25048
|
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?
|
Pathogenic; not provided
|
CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTC
|
CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACTCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTC
|
Task1_train_25049
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCT
|
CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGATCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCT
|
Task1_train_25050
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACAGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
Task1_train_25051
|
Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Osteogenesis imperfecta type III
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACTGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
Task1_train_25052
|
Here is a variant affecting COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Osteogenesis imperfecta type I
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACTGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
|
Task1_train_25053
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAG
|
TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGAGCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAG
|
Task1_train_25054
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACT
|
GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACTAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACT
|
Task1_train_25055
|
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; Osteogenesis imperfecta type I
|
TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATC
|
TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGGCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATC
|
Task1_train_25056
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCGGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25057
|
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?
|
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25058
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25059
|
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?
|
Pathogenic; Osteoporosis
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25060
|
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?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25061
|
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.
|
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25062
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25063
|
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Osteogenesis imperfecta type III
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25064
|
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Infantile cortical hyperostosis
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
|
Task1_train_25065
|
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 type I
|
GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCG
|
GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTGCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCG
|
Task1_train_25066
|
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.
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGT
|
TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCAACCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGT
|
Task1_train_25067
|
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; not provided
|
GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTG
|
GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACTCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTG
|
Task1_train_25068
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25069
|
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?
|
Pathogenic; Osteoporosis
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25070
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25071
|
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?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25072
|
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?
|
Pathogenic; Osteogenesis imperfecta, perinatal lethal
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25073
|
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Infantile cortical hyperostosis
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25074
|
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
|
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25075
|
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.
|
Pathogenic; Osteogenesis imperfecta type III
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25076
|
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.
|
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
|
Task1_train_25077
|
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Osteogenesis imperfecta type I
|
TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCA
|
TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGTCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCA
|
Task1_train_25078
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
|
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCAGCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
|
Task1_train_25079
|
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?
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
|
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCAGCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
|
Task1_train_25080
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCA
|
GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACTCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCA
|
Task1_train_25081
|
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; Osteogenesis imperfecta type I
|
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
|
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACATTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
|
Task1_train_25082
|
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.
|
Pathogenic; Infantile cortical hyperostosis
|
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
|
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACGTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
|
Task1_train_25083
|
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
|
CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGG
|
CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCTATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGG
|
Task1_train_25084
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACT
|
GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGGCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACT
|
Task1_train_25085
|
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
|
GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCT
|
GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCAGCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCT
|
Task1_train_25086
|
This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
|
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
|
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACTAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
|
Task1_train_25087
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
|
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACTAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
|
Task1_train_25088
|
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; Osteogenesis imperfecta type I
|
CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCC
|
CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGGCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCC
|
Task1_train_25089
|
A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Osteogenesis imperfecta type I
|
CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGT
|
CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACTACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGT
|
Task1_train_25090
|
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGA
|
TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACAACCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGA
|
Task1_train_25091
|
This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Osteogenesis imperfecta
|
CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAA
|
CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACACTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAA
|
Task1_train_25092
|
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.
|
Pathogenic; not provided
|
CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCC
|
CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCTCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCC
|
Task1_train_25093
|
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?
|
Pathogenic; Osteogenesis imperfecta type I
|
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
|
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACAAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
|
Task1_train_25094
|
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?
|
Pathogenic; not provided
|
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
|
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACTAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
|
Task1_train_25095
|
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.
|
Pathogenic; Osteogenesis imperfecta type I
|
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
|
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACACTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
|
Task1_train_25096
|
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Osteogenesis imperfecta type I
|
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
|
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACTCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
|
Task1_train_25097
|
Consider this mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Osteogenesis imperfecta type I
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
Task1_train_25098
|
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; Osteoporosis
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
Task1_train_25099
|
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?
|
Pathogenic; Osteogenesis imperfecta type III
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.