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_6800
|
Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Epidermolysis bullosa pruriginosa
|
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
|
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
|
Task1_train_6801
|
Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Recessive dystrophic epidermolysis bullosa
|
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
|
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
|
Task1_train_6802
|
A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6803
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This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Epidermolysis bullosa dystrophica
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6804
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This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTC
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GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCTGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTC
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Task1_train_6805
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A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; COL7A1-related disorder
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GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTC
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GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCTGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTC
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Task1_train_6806
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With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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CCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAG
|
CCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGTCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAG
|
Task1_train_6807
|
This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Epidermolysis bullosa dystrophica
|
ATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAG
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ATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACGTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAG
|
Task1_train_6808
|
The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Epidermolysis bullosa dystrophica
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CCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAG
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CCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCGTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAG
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Task1_train_6809
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Epidermolysis bullosa dystrophica
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CCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGG
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CCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTACCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGG
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Task1_train_6810
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This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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TTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGAC
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TTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCATCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGAC
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Task1_train_6811
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This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Epidermolysis bullosa dystrophica
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CAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACC
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CAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCTTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACC
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Task1_train_6812
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Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Epidermolysis bullosa dystrophica
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CCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCA
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CCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGACTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCA
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Task1_train_6813
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This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6814
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A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Epidermolysis bullosa dystrophica
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6815
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A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6816
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6817
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A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Transient bullous dermolysis of the newborn
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6818
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Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Nonsyndromic congenital nail disorder 8
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6819
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This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Epidermolysis bullosa pruriginosa
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6820
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This mutation occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6821
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Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCACTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCT
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Task1_train_6822
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Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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AGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCC
|
AGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGAACCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCC
|
Task1_train_6823
|
This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
|
Pathogenic; not provided
|
GACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTG
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GACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACTCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTG
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Task1_train_6824
|
Gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
|
AGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGG
|
AGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTACTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGG
|
Task1_train_6825
|
Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
AGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAG
|
AGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCATCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAG
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Task1_train_6826
|
A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
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CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCT
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CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAAACTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCT
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Task1_train_6827
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This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Epidermolysis bullosa dystrophica
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CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCT
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CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAATCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCT
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Task1_train_6828
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Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6829
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A variant was discovered on Chromosome 3, affecting COL7A1 (collagen type VII alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6830
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A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6831
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Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6832
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A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Epidermolysis bullosa pruriginosa
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6833
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Transient bullous dermolysis of the newborn
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6834
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With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCTTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACC
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Task1_train_6835
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The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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GAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGC
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GAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCGAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGC
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Task1_train_6836
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A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Epidermolysis bullosa dystrophica
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GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACA
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GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCTGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACA
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Task1_train_6837
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACA
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GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCTGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACA
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Task1_train_6838
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Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCTGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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Task1_train_6839
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Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; COL7A1-related disorder
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCTGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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Task1_train_6840
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epidermolysis bullosa dystrophica
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCTGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCAT
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Task1_train_6841
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The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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TCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCG
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TCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGAGCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCG
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Task1_train_6842
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Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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TCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTAT
|
TCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCATCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTAT
|
Task1_train_6843
|
This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; not provided
|
TCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAA
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TCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACGTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAA
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Task1_train_6844
|
The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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GGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGG
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GGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTGCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGG
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Task1_train_6845
|
Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; not provided
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GCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGG
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GCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCTCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGG
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Task1_train_6846
|
Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Epidermolysis bullosa dystrophica
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CTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTT
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CTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCAGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTT
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Task1_train_6847
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The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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GACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCA
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GACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCTCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCA
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Task1_train_6848
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Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Epidermolysis bullosa pruriginosa, autosomal dominant
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCTCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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Task1_train_6849
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This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Transient bullous dermolysis of the newborn
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCTCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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Task1_train_6850
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This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCTCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACC
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Task1_train_6851
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCA
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TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCTCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCA
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Task1_train_6852
|
A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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GGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGG
|
GGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACTCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGG
|
Task1_train_6853
|
This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Inborn genetic diseases
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GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGG
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GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCGCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGG
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Task1_train_6854
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Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGG
|
GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCTCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGG
|
Task1_train_6855
|
A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Epidermolysis bullosa dystrophica
|
GGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAAT
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GGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAAGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAAT
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Task1_train_6856
|
The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Epidermolysis bullosa dystrophica
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ATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGC
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ATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGTTCAGGCATGGCACAGGCACAGGGAGCCCACACGCGAGTGCAGACATCTGGCTCCACAGACGTGAGTGCGGACACACGGGCGCTCAGAGGGGAACCCCAACACGTCCACTCCCGGGTAGAGCAGGCATGGCCACAGGCTGAACGCTGGCAGCCAGGGGCAGGGGAAAGGAGGATTGTAAACACAGGACCAAGGAGAGGTTCACAAGAACTCAGGTGTGTCCTGGGATCTGGGAGATCAGACCAGAGCACACGTGTGCCCAGATGTGGTGAGAAACAGACCAAGGATGGGCACACAGAAGCCAAGACAGGGCCCCCAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCCTCGCGGCCCTGGCAGTCCTCGGTCACCTTTGGCTCCCTGTTGACAGAGGTCAGGAGGCAACACAGGCATCAGTCACAGAAAGATGAGACTCCGGAGGGAGGCATGGGGCCAGAGCTTAAATATGCGGTCTACTATGAAAGCTGAGGGTCATGAGGGTGGGTAAACTATGGGTCGAAGGTCAGAAGTTAGGCCACTGGAGAGACAGGACCCCCAGAACATCTGCTGTCAGAAGTTCCCTACTTACCGGCTCACCCACCAGGTCTCCAGCAAGGCCTCCAGGGGCTCCCTGGTAAGGGGGAGAGGTCAGTGGGATTCCTTGGCCCCCACCAGTTGACCCCCCCTCACTGGCAGCCCCACACACACTCACCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTGCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGC
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Task1_train_6857
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This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; not provided
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CCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCAT
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CCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGAGCCCAACCCTTGACCCCCAGAACTCACCACTTGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACGCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCAT
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Task1_train_6858
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A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTG
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ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCTAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTG
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Task1_train_6859
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This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTG
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ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCTAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTG
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Task1_train_6860
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGG
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CAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGTCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGG
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Task1_train_6861
|
An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Epidermolysis bullosa pruriginosa, autosomal dominant
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TGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCC
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TGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGACCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCC
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Task1_train_6862
|
The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
|
GTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCG
|
GTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCACTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCG
|
Task1_train_6863
|
This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
AGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGA
|
AGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCCGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGA
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Task1_train_6864
|
Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; not provided
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CAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAG
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CAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCTTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAG
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Task1_train_6865
|
Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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AAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCA
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AAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCTCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCA
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Task1_train_6866
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACAT
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GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCATTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACAT
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Task1_train_6867
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A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Epidermolysis bullosa dystrophica
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GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACAT
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GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCATTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACAT
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Task1_train_6868
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A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Epidermolysis bullosa dystrophica
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GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATG
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GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTACCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATG
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Task1_train_6869
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This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATG
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GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTTCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATG
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Task1_train_6870
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Chromosome 3 houses a mutation in gene COL7A1 (collagen type VII alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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CCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCAC
|
CCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCCCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCAC
|
Task1_train_6871
|
Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
|
TGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCT
|
TGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCTTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCT
|
Task1_train_6872
|
A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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GCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCAT
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GCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTTCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCAT
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Task1_train_6873
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A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Epidermolysis bullosa dystrophica
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AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGG
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AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCTCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGG
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Task1_train_6874
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An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGG
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AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCTCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGG
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Task1_train_6875
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This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAA
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CTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCTCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAA
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Task1_train_6876
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A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
|
TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCAGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
|
Task1_train_6877
|
This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
|
Pathogenic; not provided
|
TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCGGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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Task1_train_6878
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Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCTGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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Task1_train_6879
|
A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Epidermolysis bullosa dystrophica
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCTGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
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Task1_train_6880
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A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
|
TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCTGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAA
|
Task1_train_6881
|
This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
|
CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGG
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CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATATCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGG
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Task1_train_6882
|
Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Epidermolysis bullosa dystrophica
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CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGG
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CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATATCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGG
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Task1_train_6883
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Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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AAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGG
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AAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACTAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGG
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Task1_train_6884
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The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACA
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CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTACAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACA
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Task1_train_6885
|
A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACA
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CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTTCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACA
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Task1_train_6886
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A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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AGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACAT
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AGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCTAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACAT
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Task1_train_6887
|
Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCTGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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Task1_train_6888
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The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCTGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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Task1_train_6889
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A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Epidermolysis bullosa dystrophica
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCTGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGA
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Task1_train_6890
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Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Epidermolysis bullosa dystrophica
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6891
|
A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6892
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Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6893
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Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Epidermolysis bullosa pruriginosa
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6894
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Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6895
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Transient bullous dermolysis of the newborn
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6896
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A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6897
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An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6898
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A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Task1_train_6899
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The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCTGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATC
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Subsets and Splits
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